G426S (p.Gly426Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G426S (p.Gly426Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided. 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.
G426S (p.Gly426Ser) variant details
- p.Gly426Ser
- rs1554935136
- ClinGen CA379374228
- ClinVar RCV000498689
- ClinVar RCV000665319
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. (PMID 27338287)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)