G319S (p.Gly319Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G319S (p.Gly319Ser) 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; Niemann-Pick disease, type B. The record also includes published literature and structural context.
G319S (p.Gly319Ser) variant details
- p.Gly319Ser
- rs757934797
- ClinGen CA379371363
- ClinVar RCV001281409
- ExAC rs757934797
- Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- 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)