R602C (p.Arg602Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R602C (p.Arg602Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type A; Sphingomyelin/cholesterol lipidosis; Niemann-Pick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R602C (p.Arg602Cys) variant details
- p.Arg602Cys
- rs763099671
- ClinGen CA5852992
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10019
- Likely pathogenic
- Niemann-Pick disease, type A; Sphingomyelin/cholesterol lipidosis; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.74
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A; Sphingomyelin/cholesterol lipidosi)
- EBI: Likely pathogenic (in NPDB)
- UniProt: Likely pathogenic (in NPDB)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)