G319R (p.Gly319Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G319R (p.Gly319Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G319R (p.Gly319Arg) variant details
- p.Gly319Arg
- rs757934797
- ClinGen CA5852716
- ClinVar RCV000671268
- ClinVar RCV001527420
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.98
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)