C223G (p.Cys223Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C223G (p.Cys223Gly) 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.
C223G (p.Cys223Gly) variant details
- p.Cys223Gly
- rs1847923379
- ClinGen CA379370729
- ClinVar RCV001281403
- Ensembl rs1847923379
- 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: Likely pathogenic
- UniProt: Likely pathogenic
- 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)