L121P (p.Leu121Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L121P (p.Leu121Pro) 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; not provided; Sphingomyelin/cholesterol lipidosis. The record also includes published literature and structural context.
L121P (p.Leu121Pro) variant details
- p.Leu121Pro
- rs1554934109
- ClinGen CA379368739
- ClinVar RCV000671945
- ClinVar RCV005240439
- Likely pathogenic
- Niemann-Pick disease, type A; not provided; Sphingomyelin/cholesterol lipidosis
- Missense
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A; not provided; Sphingomyelin/choles)
- 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)