R378S (p.Arg378Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R378S (p.Arg378Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type B; Niemann-Pick disease, type A; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R378S (p.Arg378Ser) variant details
- p.Arg378Ser
- rs369088417
- ClinGen CA5852796
- ClinVar RCV003065047
- ClinVar RCV003324069
- Conflicting interpretations
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.91
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Likely pathogenic (in NPDB)
- UniProt: Likely pathogenic (in NPDB)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)