Y369C (p.Tyr369Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y369C (p.Tyr369Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y369C (p.Tyr369Cys) variant details
- p.Tyr369Cys
- rs372287825
- ClinGen CA10605962
- ClinVar RCV000292122
- ClinVar RCV001004584
- Conflicting interpretations
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.98
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. (PMID 19405096)
- Cited in: Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. (PMID 27338287)