SGCD (Delta-sarcoglycan) variants and mutations
SGCD (also known as Delta-sarcoglycan) is a human protein-coding gene encoding a delta-sarcoglycan protein. Delta-sarcoglycan is part of the dystrophin-associated complex that links the muscle-cell cytoskeleton to the extracellular matrix. Variants can cause limb-girdle muscular dystrophy and cardiomyopathy. This analysis covers 614 SGCD variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes autosomal recessive limb-girdle muscular dystrophy type 2F, dilated cardiomyopathy 1L, and autosomal recessive limb-girdle muscular dystrophy. Example SGCD variants include P2A, P2L, and P2S.
Variant analysis overview
- Gene: SGCD
- Protein: Delta-sarcoglycan
- UniProt accession: Q92629
- Organism: Homo sapiens
- Variants analyzed: 614
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 502 unspecified-consequence records; 65 missense variants; 51 synonymous variants; 12 frameshift variants; 3 stop-gained variants; 2 in-frame insertions; 3 splice-region variants; 1 in-frame deletions
- Prediction scores: 579 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: autosomal recessive limb-girdle muscular dystrophy type 2F, dilated cardiomyopathy 1L, autosomal recessive limb-girdle muscular dystrophy, familial isolated dilated cardiomyopathy, schizophrenia, post-traumatic stress disorder, cellulitis, abscess, smoking cessation, dilated cardiomyopathy, Abnormality of the musculature, limb-girdle muscular dystrophy.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 3 post-translational modification sites.
- Structural context: 53 variants have structural context.
- PTM context: 6 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to SGCD
Notable SGCD variants
Examples include P2A, P2L, P2S, P2T, P2H, Q3*, Q3H, Q3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P2A (p.Pro2Ala), TOPMed rs1768838173, ESM-1b 0.00, AlphaMissense 0.09
- P2L (p.Pro2Leu), rs1554094928, ClinGen CA362007503, ClinVar RCV000593997, Ensembl rs1554094928, ESM-1b 0.00, AlphaMissense 0.21, Uncertain significance, not provided
- P2S (p.Pro2Ser), cosmic curated COSV10742, ESM-1b 0.00, AlphaMissense 0.10
- P2T (p.Pro2Thr), cosmic curated COSV10054, ESM-1b 0.00, AlphaMissense 0.08
- P2H (p.Pro2His), gnomAD 5-156344493-C-A, REVEL 0.19, ESM-1b 0.00
- Q3* (p.Gln3Ter), rs1768838504, ClinGen CA362007506, ClinVar RCV001970160, ClinVar RCV005032008, Pathogenic
- Q3H (p.Gln3His), NCI-TCGA Cosmic COSV6190, cosmic curated COSV61904, ESM-1b 0.00, AlphaMissense 0.21, Variant assessed as somatic; moderate impact.
- Q3P (p.Gln3Pro), 1000Genomes rs535501891, ExAC rs535501891, gnomAD rs535501891, ESM-1b 0.00, AlphaMissense 0.08
- Q3R (p.Gln3Arg), 1000Genomes rs535501891, ExAC rs535501891, gnomAD rs535501891, ESM-1b 0.00, AlphaMissense 0.10
- E4D (p.Glu4Asp), rs549319429, ClinGen CA308779, ClinVar RCV000183899, ClinVar RCV000389000, ESM-1b 0.00, AlphaMissense 0.22, Benign/Likely benign, not specified; Qualitative or quantitative defects of delta-sarcoglycan; not pro
- E4K (p.Glu4Lys), cosmic curated COSV61912, ESM-1b 1.00, AlphaMissense 0.38
- E4V (p.Glu4Val), gnomAD 5-156344499-A-T, REVEL 0.59, ESM-1b 0.59
- E4E (p.Glu4Glu), rs549319429, gnomAD 5-156344500-G-A, AlphaMissense 0.22, MetaLR 0.53
- Q5H (p.Gln5His), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10055, ESM-1b 0.00, AlphaMissense 0.21, Variant assessed as somatic; moderate impact.
- Q5K (p.Gln5Lys), cosmic curated COSV61904, ESM-1b 0.00, AlphaMissense 0.13
- Q5R (p.Gln5Arg), TOPMed rs1199764097, ESM-1b 0.00, AlphaMissense 0.15
- Q5P (p.Gln5Pro), gnomAD 5-156344502-A-C, REVEL 0.51, ESM-1b 0.00
- Y6C (p.Tyr6Cys), gnomAD rs1171173178, ESM-1b 1.00, AlphaMissense 0.09
- Y6H (p.Tyr6His), rs1561633494, ClinGen CA362007527, ClinVar RCV000685017, ClinVar RCV003163092, ESM-1b 0.12, AlphaMissense 0.23, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F; Inborn genetic disea
- T7A (p.Thr7Ala), rs1554094932, ClinGen CA362007536, ClinVar RCV000593101, ClinVar RCV005480413, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Inborn genetic diseases; not provided
- T7N (p.Thr7Asn), cosmic curated COSV61908, ESM-1b 0.00, AlphaMissense 0.08
- T7S (p.Thr7Ser), gnomAD 5-156344507-A-T, REVEL 0.14, ESM-1b 0.00
- T7T (p.Thr7Thr), gnomAD 5-156344509-T-C, CADD 4.17
- H8Y (p.His8Tyr), rs1320640424, ClinGen CA362007542, cosmic curated COSV61918, ClinVar RCV000845425, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty
- H9Y (p.His9Tyr), rs2127716448, ClinGen CA362007549, ClinVar RCV001992449, Ensembl rs2127716448, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- H9R (p.His9Arg), gnomAD 5-156344514-A-G, REVEL 0.12, ESM-1b 0.00
- H9Q (p.His9Gln), gnomAD 5-156344515-C-G, REVEL 0.12, ESM-1b 0.00
- R10G (p.Arg10Gly), rs566181541, ClinGen CA362007556, ClinVar RCV002322951, ESM-1b 0.00, AlphaMissense 0.26, Uncertain significance, Inborn genetic diseases
- R10Q (p.Arg10Gln), rs752548592, ClinGen CA302929, NCI-TCGA Cosmic COSV6190, cosmic curated COSV61903, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty
- R10W (p.Arg10Trp), rs566181541, ClinGen CA3530471, NCI-TCGA Cosmic COSV6191, cosmic curated COSV61911, ESM-1b 1.00, AlphaMissense 0.26, Uncertain significance, not specified; Inborn genetic diseases; not provided
- R10R (p.Arg10Arg), rs756007116, gnomAD 5-156344518-G-A, CADD 9.18
- S11N (p.Ser11Asn), rs1449665448, ClinGen CA362007561, ClinVar RCV001308420, TOPMed rs1449665448, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- S11G (p.Ser11Gly), rs367557986, gnomAD 5-156344519-A-G, REVEL 0.14, ESM-1b 0.00
- S11T (p.Ser11Thr), gnomAD 5-156344520-G-C, REVEL 0.07, ESM-1b 0.00
- S11R (p.Ser11Arg), gnomAD 5-156344521-C-A, REVEL 0.13, ESM-1b 0.00
- T12A (p.Thr12Ala), TOPMed rs1303645291, gnomAD rs1303645291, ESM-1b 0.00, AlphaMissense 0.06
- T12I (p.Thr12Ile), rs1768840932, ClinGen CA362007571, ClinVar RCV001344133, TOPMed rs1768840932, ESM-1b 0.08, AlphaMissense 0.15, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- T12S (p.Thr12Ser), rs1768840932, ClinGen CA362007570, ClinVar RCV004525329, TOPMed rs1768840932, ESM-1b 0.00, AlphaMissense 0.15, Uncertain significance, Inborn genetic diseases
- T12T (p.Thr12Thr), rs1389925447, gnomAD 5-156344524-C-A, CADD 8.06
- M13I (p.Met13Ile), rs1281906026, ClinGen CA362007577, cosmic curated COSV61916, ClinVar RCV001768711, ESM-1b 0.00, AlphaMissense 0.22, Uncertain significance, not provided
- M13R (p.Met13Arg), cosmic curated COSV10523, ESM-1b 0.00, AlphaMissense 0.14
- M13T (p.Met13Thr), rs1768841493, ClinGen CA362007575, ClinVar RCV002628568, ClinVar RCV006363302, ESM-1b 0.00, AlphaMissense 0.14, Uncertain significance, Inborn genetic diseases; Autosomal recessive limb-girdle muscular dystrophy type
- M13V (p.Met13Val), rs903232864, ClinGen CA130594216, NCI-TCGA Cosmic COSV6190, cosmic curated COSV61905, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- P14P (p.Pro14Pro), rs727505092, gnomAD 5-156344530-T-A, CADD 2.42
- G15D (p.Gly15Asp), rs2481652598, ClinGen CA362007591, ClinVar RCV002642645, cosmic curated COSV10817, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- G15V (p.Gly15Val), gnomAD 5-156344532-G-T, REVEL 0.08, ESM-1b 0.00
- S16F (p.Ser16Phe), cosmic curated COSV61908, ESM-1b 0.51, AlphaMissense 0.14
- S16C (p.Ser16Cys), rs1219744518, gnomAD 5-156344532-GCT-G, CADD 24.00
- S16S (p.Ser16Ser), rs2127716489, gnomAD 5-156344536-T-C, CADD 0.38
- V17L (p.Val17Leu), cosmic curated COSV61916, ESM-1b 0.00, AlphaMissense 0.10
- V17G (p.Val17Gly), gnomAD 5-156344538-T-G, REVEL 0.07, ESM-1b 0.00
- V17E (p.Val17Glu), gnomAD 5-156344538-T-A, REVEL 0.07, ESM-1b 0.00
- V17V (p.Val17Val), rs756970013, gnomAD 5-156344539-G-A, CADD 4.97
- G18A (p.Gly18Ala), rs778664534, ClinGen CA362007607, ClinVar RCV003061979, ESM-1b 0.00, AlphaMissense 0.14, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- G18E (p.Gly18Glu), ExAC rs778664534, gnomAD rs778664534, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance
- G18G (p.Gly18Gly), gnomAD 5-156344542-G-T, CADD 4.72
- P19L (p.Pro19Leu), ExAC rs745397161, gnomAD rs745397161, ESM-1b 1.00, AlphaMissense 0.13
- P19Q (p.Pro19Gln), ExAC rs745397161, gnomAD rs745397161, ESM-1b 0.00, AlphaMissense 0.10
- P19H (p.Pro19His), gnomAD 5-156344538-TG-T, CADD 24.00
- Q20* (p.Gln20Ter), cosmic curated COSV61913
- Q20K (p.Gln20Lys), ExAC rs771463833, TOPMed rs771463833, gnomAD rs771463833, ESM-1b 0.00, AlphaMissense 0.08
- Q20P (p.Gln20Pro), TOPMed rs1041584098, gnomAD rs1041584098, ESM-1b 0.00, AlphaMissense 0.07
- Q20Q (p.Gln20Gln), gnomAD 5-156344548-G-A, CADD 3.79
- V21A (p.Val21Ala), NCI-TCGA Cosmic COSV6190, cosmic curated COSV61904, TOPMed rs1768843296, ESM-1b 0.00, AlphaMissense 0.22, Variant assessed as somatic; moderate impact.
- V21Y (p.Val21Tyr), rs1768843133, gnomAD 5-156344547-AG-A, CADD 23.00
- V21L (p.Val21Leu), gnomAD 5-156344549-G-T, REVEL 0.46, ESM-1b 0.31
- V21V (p.Val21Val), rs900010728, gnomAD 5-156344551-A-T, CADD 3.08
- Y22* (p.Tyr22Ter), rs397517923, ClinGen CA362007631, ClinVar RCV000669132, 1000Genomes rs397517923, Likely pathogenic
- Y22C (p.Tyr22Cys), 1000Genomes rs776107667, ExAC rs776107667, TOPMed rs776107667, gnomAD rs776107667, ESM-1b 1.00, AlphaMissense 0.25
- Y22H (p.Tyr22His), rs1768843843, ClinGen CA362007627, ClinVar RCV003406208, Ensembl rs1768843843, ESM-1b 0.56, AlphaMissense 0.47, Uncertain significance, SGCD-related disorder
- Y22N (p.Tyr22Asn), gnomAD 5-156344552-T-A, REVEL 0.96, ESM-1b 1.00
- Y22F (p.Tyr22Phe), gnomAD 5-156344553-A-T, REVEL 0.78, ESM-1b 1.00
- Y22Y (p.Tyr22Tyr), rs397517923, gnomAD 5-156344554-C-T, CADD 7.67
- K23Q (p.Lys23Gln), NCI-TCGA Cosmic COSV6191, cosmic curated COSV61917, ESM-1b 1.00, AlphaMissense 0.19, Variant assessed as somatic; moderate impact.
- K23R (p.Lys23Arg), TOPMed rs1474856736, gnomAD rs1474856736, ESM-1b 0.00, AlphaMissense 0.09
- V24G (p.Val24Gly), TOPMed rs1768844858, ESM-1b 1.00, AlphaMissense 0.70
- V24L (p.Val24Leu), Ensembl rs1768844706, ESM-1b 1.00, AlphaMissense 0.83, Uncertain significance, Inborn genetic diseases
- V24D (p.Val24Asp), gnomAD 5-156344556-AGGTG, CADD 32.00
- V24M (p.Val24Met), gnomAD 5-156344558-G-A, REVEL 0.86, ESM-1b 1.00
- V24V (p.Val24Val), gnomAD 5-156344560-G-A, CADD 13.80
- G25E (p.Gly25Glu), rs370189224, ClinGen CA3530480, cosmic curated COSV10440, ClinVar RCV002224503, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, not provided; Inborn genetic diseases
- G25R (p.Gly25Arg), ExAC rs769123154, gnomAD rs769123154, REVEL 0.73, ESM-1b 1.00
- G25G (p.Gly25Gly), rs1768845357, gnomAD 5-156344563-G-A, CADD 8.90
- I26F (p.Ile26Phe), rs373824540, ClinGen CA362007652, ClinVar RCV002419136, ClinVar RCV003138233, ESM-1b 1.00, AlphaMissense 0.44, Uncertain significance, Inborn genetic diseases; not provided
- I26T (p.Ile26Thr), gnomAD rs1167098684, ESM-1b 1.00, AlphaMissense 0.99
- I26V (p.Ile26Val), ESP rs373824540, ExAC rs373824540, TOPMed rs373824540, gnomAD rs373824540, ESM-1b 1.00, AlphaMissense 0.33, Uncertain significance, Inborn genetic diseases
- Y27* (p.Tyr27Ter), gnomAD 5-156344569-T-A, CADD 33.00
- Y27Y (p.Tyr27Tyr), rs1801193, gnomAD 5-156344569-T-C, CADD 1.14
- G28C (p.Gly28Cys), ExAC rs773399590, TOPMed rs773399590, gnomAD rs773399590, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance
- G28S (p.Gly28Ser), rs773399590, ClinGen CA3530482, NCI-TCGA Cosmic COSV6190, cosmic curated COSV61905, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance, not provided
- G28V (p.Gly28Val), ExAC rs763131123, gnomAD rs763131123, ESM-1b 1.00, AlphaMissense 0.99
- G28T (p.Gly28Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G28G (p.Gly28Gly), rs766362148, gnomAD 5-156344572-C-A, CADD 10.50
- W29* (p.Trp29Ter), rs2481653253, ClinGen CA362007673, ClinVar RCV002750750, Pathogenic
- W29L (p.Trp29Leu), ExAC rs121909296, gnomAD rs121909296, ESM-1b 1.00, AlphaMissense 0.97, Pathogenic
- W29S (p.Trp29Ser), rs121909296, ClinGen CA362007672, ClinVar RCV000522372, ExAC rs121909296, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance, not provided
- R30G (p.Arg30Gly), rs202223676, ClinGen CA200046, cosmic curated COSV61905, ClinVar RCV000172778, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy
- R30L (p.Arg30Leu), cosmic curated COSV61904, ESM-1b 1.00, AlphaMissense 0.99
- R30Q (p.Arg30Gln), rs200476861, ClinGen CA302926, cosmic curated COSV61907, ClinVar RCV000212998, ESM-1b 1.00, AlphaMissense 0.86, Conflicting interpretations, Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty
- R30W (p.Arg30Trp), rs202223676, ClinGen CA3530486, cosmic curated COSV11487, ClinVar RCV000808519, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy
- K31E (p.Lys31Glu), ExAC rs757073458, gnomAD rs757073458, ESM-1b 1.00, AlphaMissense 0.99
- K31R (p.Lys31Arg), gnomAD rs1347448512, ESM-1b 1.00, AlphaMissense 0.55
- K31K (p.Lys31Lys), rs1198904722, gnomAD 5-156344581-A-G, CADD 9.39
- R32* (p.Arg32Ter), rs778760498, ClinGen CA3530488, NCI-TCGA Cosmic COSV6191, cosmic curated COSV61910, Pathogenic
- R32Q (p.Arg32Gln), rs1488623227, ClinGen CA362007686, NCI-TCGA Cosmic COSV6190, cosmic curated COSV61903, ESM-1b 1.00, AlphaMissense 0.73, Uncertain significance, Inborn genetic diseases; not provided; Autosomal recessive limb-girdle muscular
- R32R (p.Arg32Arg), gnomAD 5-156344582-C-A, CADD 8.50
- C33G (p.Cys33Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C33F (p.Cys33Phe), cosmic curated COSV61909, ESM-1b 1.00, AlphaMissense 0.52
- C33S (p.Cys33Ser), ExAC rs757994622, gnomAD rs757994622, ESM-1b 1.00, AlphaMissense 0.91, Uncertain significance
- C33Y (p.Cys33Tyr), rs757994622, ClinGen CA362007692, ClinVar RCV000814032, ClinVar RCV003372873, ESM-1b 1.00, AlphaMissense 0.93, Uncertain significance, Inborn genetic diseases; Autosomal recessive limb-girdle muscular dystrophy type
- C33A (p.Cys33Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C33T (p.Cys33Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L34P (p.Leu34Pro), rs1014551583, ClinGen CA130594219, ClinVar RCV001924090, TOPMed rs1014551583, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- L34L (p.Leu34Leu), gnomAD 5-156344588-C-T, CADD 8.62
- Y35H (p.Tyr35His), gnomAD 5-156344591-T-C, REVEL 0.95, ESM-1b 1.00
- Y35C (p.Tyr35Cys), gnomAD 5-156344592-A-G, REVEL 0.97, ESM-1b 1.00
- Y35Y (p.Tyr35Tyr), gnomAD 5-156344593-T-C, CADD 7.88
- F36L (p.Phe36Leu), cosmic curated COSV61917, ESM-1b 0.00, AlphaMissense 0.52
- F37C (p.Phe37Cys), rs1052197017, ClinGen CA130594221, ClinVar RCV002224262, gnomAD rs1052197017, ESM-1b 1.00, AlphaMissense 0.78, Uncertain significance, not provided
- F37L (p.Phe37Leu), rs750206304, ClinGen CA130594220, ClinVar RCV002595557, ClinVar RCV004963460, ESM-1b 0.25, AlphaMissense 0.93, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F; Inborn genetic disea
- F37I (p.Phe37Ile), gnomAD 5-156344594-T-A, REVEL 0.56, ESM-1b 1.00
- F37F (p.Phe37Phe), gnomAD 5-156344596-C-T, CADD 11.00
- V38A (p.Val38Ala), rs794729164, ClinGen CA308782, ClinVar RCV000183900, ClinVar RCV001852377, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance, not provided; Autosomal recessive limb-girdle muscular dystrophy type 2F; Dilate
- V38I (p.Val38Ile), cosmic curated COSV10610, ESM-1b 0.10, AlphaMissense 0.16
- V38L (p.Val38Leu), rs1768850304, ClinGen CA362007723, ClinVar RCV002601971, TOPMed rs1768850304, ESM-1b 1.00, AlphaMissense 0.69, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- V38V (p.Val38Val), rs1768850599, gnomAD 5-156344602-C-T, CADD 8.13
- L39R (p.Leu39Arg), gnomAD rs1297825863, REVEL 0.96, ESM-1b 1.00
- L40F (p.Leu40Phe), cosmic curated COSV61909, ExAC rs769047953, TOPMed rs769047953, gnomAD rs769047953, ESM-1b 0.00, AlphaMissense 0.27, Uncertain significance
- L40I (p.Leu40Ile), rs769047953, ClinGen CA362007733, ClinVar RCV001350745, ExAC rs769047953, ESM-1b 0.00, AlphaMissense 0.21, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- L40L (p.Leu40Leu), gnomAD 5-156344603-C-T, CADD 9.96
- L40P (p.Leu40Pro), gnomAD 5-156344604-T-C, REVEL 0.96, ESM-1b 1.00
- L41P (p.Leu41Pro), ExAC rs770112094, gnomAD rs770112094, REVEL 0.95, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- L41S (p.Leu41Ser), gnomAD 5-156344604-TG-T, CADD 12.60
- p.Leu42dup, gnomAD 5-156344605-G-GCT, CADD 18.80
- L41I (p.Leu41Ile), rs769047953, gnomAD 5-156344606-C-A, REVEL 0.65, ESM-1b 1.00
- L41F (p.Leu41Phe), rs769047953, gnomAD 5-156344606-C-T, REVEL 0.68, ESM-1b 1.00
- L41L (p.Leu41Leu), rs200670993, gnomAD 5-156344608-C-G, CADD 8.29
- M42L (p.Met42Leu), rs2127716663, ClinGen CA362007743, ClinVar RCV001966896, Ensembl rs2127716663, ESM-1b 0.00, AlphaMissense 0.35, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- M42V (p.Met42Val), NCI-TCGA Cosmic COSV6190, cosmic curated COSV61904, ESM-1b 0.70, AlphaMissense 0.56, Variant assessed as somatic; moderate impact.
- M42I (p.Met42Ile), gnomAD 5-156344614-G-A, REVEL 0.62, ESM-1b 0.44
- I43M (p.Ile43Met), NCI-TCGA Cosmic COSV6191, cosmic curated COSV61914, ESM-1b 0.76, AlphaMissense 0.17, Variant assessed as somatic; moderate impact.
- I43S (p.Ile43Ser), rs1419851820, ClinGen CA362007755, ClinVar RCV002042719, gnomAD rs1419851820, ESM-1b 1.00, AlphaMissense 0.59, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- I43V (p.Ile43Val), rs1768851759, ClinGen CA362007752, ClinVar RCV002895123, NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- I45M (p.Ile45Met), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, ESM-1b 0.00, AlphaMissense 0.36, Variant assessed as somatic; moderate impact.
- I45V (p.Ile45Val), TOPMed rs1230716366, gnomAD rs1230716366, ESM-1b 0.00, AlphaMissense 0.23, Uncertain significance, Inborn genetic diseases
- I45T (p.Ile45Thr), gnomAD 5-156344622-T-C, REVEL 0.84, ESM-1b 0.09
- L46V (p.Leu46Val), gnomAD 5-156344624-C-G, REVEL 0.25, ESM-1b 0.00
- L46P (p.Leu46Pro), gnomAD 5-156344625-T-C, REVEL 0.91, ESM-1b 1.00
- V47* (p.Val47Ter), cosmic curated COSV10742
- V47L (p.Val47Leu), rs556208970, 1000Genomes rs556208970, ExAC rs556208970, TOPMed rs556208970, ESM-1b 0.00, AlphaMissense 0.26, Variant assessed as somatic; moderate impact.
- V47M (p.Val47Met), 1000Genomes rs556208970, ExAC rs556208970, TOPMed rs556208970, gnomAD rs556208970, ESM-1b 1.00, AlphaMissense 0.34
- V47V (p.Val47Val), gnomAD 5-156344629-G-A, CADD 9.18
- N48D (p.Asn48Asp), TOPMed rs1156316973, ESM-1b 1.00, AlphaMissense 0.99
- N48I (p.Asn48Ile), gnomAD 5-156344631-A-T, REVEL 0.87, ESM-1b 1.00
- L49L (p.Leu49Leu), rs774295723, gnomAD 5-156344635-G-A, CADD 8.88
- A50G (p.Ala50Gly), rs367557986, NCI-TCGA TCGA novel, cosmic curated COSV10055, ESP rs367557986, AlphaMissense 0.07, MetaLR 0.43, Variant assessed as somatic; moderate impact.
- A50D (p.Ala50Asp), TOPMed rs1418644674, gnomAD rs1418644674, ESM-1b 1.00, AlphaMissense 1.00
- A50T (p.Ala50Thr), cosmic curated COSV61904, ESM-1b 0.74, AlphaMissense 0.61
- A50V (p.Ala50Val), TOPMed rs1418644674, gnomAD rs1418644674, ESM-1b 0.47, AlphaMissense 0.82
- A50P (p.Ala50Pro), gnomAD 5-156344636-G-C, REVEL 0.89, ESM-1b 1.00
- A50A (p.Ala50Ala), rs1021837057, gnomAD 5-156344638-C-T, CADD 11.60
- M51I (p.Met51Ile), cosmic curated COSV61904, cosmic curated COSV10942, ESM-1b 0.00, AlphaMissense 0.89
- M51T (p.Met51Thr), rs2127716699, ClinGen CA362007807, ClinVar RCV001940403, Ensembl rs2127716699, ESM-1b 0.49, AlphaMissense 0.85, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- M51V (p.Met51Val), gnomAD 5-156344639-A-G, REVEL 0.53, ESM-1b 0.00
- I53V (p.Ile53Val), rs200671745, ClinGen CA308785, ClinVar RCV000183901, ClinVar RCV000545954, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance, not specified; Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscul
- W54S (p.Trp54Ser), cosmic curated COSV61919, ESM-1b 1.00, AlphaMissense 0.96
- W54R (p.Trp54Arg), gnomAD 5-156344648-T-C, REVEL 0.94, ESM-1b 1.00
- L56L (p.Leu56Leu), gnomAD 5-156344656-C-G, CADD 8.86
- K57N (p.Lys57Asn), TOPMed rs991798922, ESM-1b 1.00, AlphaMissense 0.94
- K57I (p.Lys57Ile), gnomAD 5-156344617-T-TTT, CADD 26.40
- K57S (p.Lys57Ser), gnomAD 5-156344656-CAA-C, CADD 33.00
- K57* (p.Lys57Ter), gnomAD 5-156344657-A-T, CADD 42.00
- V58F (p.Val58Phe), rs1274415049, ClinGen CA362007854, ClinVar RCV000560765, TOPMed rs1274415049, ESM-1b 1.00, AlphaMissense 0.42, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- V58I (p.Val58Ile), TOPMed rs1274415049, gnomAD rs1274415049, ESM-1b 1.00, AlphaMissense 0.38, Uncertain significance
- M59I (p.Met59Ile), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10054, TOPMed rs1768855804, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Autosomal recessive limb-girdle muscular dystrophy type 2F
- M59T (p.Met59Thr), ExAC rs764153825, gnomAD rs764153825, ESM-1b 1.00, AlphaMissense 0.90
- M59V (p.Met59Val), Ensembl rs1002196143, ESM-1b 1.00, AlphaMissense 0.88
- M59L (p.Met59Leu), gnomAD 5-156344663-A-T, REVEL 0.39, ESM-1b 0.10
- N60D (p.Asn60Asp), gnomAD rs1218958411, ESM-1b 0.00, AlphaMissense 0.25
- N60T (p.Asn60Thr), NCI-TCGA Cosmic COSV6191, cosmic curated COSV61918, ESM-1b 1.00, AlphaMissense 0.54, Variant assessed as somatic; moderate impact.
Public SGCD analysis runs
- SGCD analysis run — SGCD (614 variants) — completed 2026-10-09