R378C (p.Arg378Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R378C (p.Arg378Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lysosomal storage disease; Niemann-Pick disease, type A; Niemann-Pick disease, t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R378C (p.Arg378Cys) variant details
- p.Arg378Cys
- rs369088417
- ClinGen CA5852795
- cosmic curated COSV54969
- ClinVar RCV002050526
- Likely pathogenic
- Lysosomal storage disease; Niemann-Pick disease, type A; Niemann-Pick disease, t
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lysosomal storage disease; Niemann-Pick disease, type A; Niemann)
- EBI: Likely pathogenic (in NPDB)
- UniProt: Likely pathogenic (in NPDB)
- Most common in the African/African-American population (allele frequency 0.00036)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)