ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)

gnomAD frequency: 0.00001  dbSNP: rs1206562843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital RCV001281417 SCV001468722 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001281417 SCV001488731 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2018-06-05 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 401 of the SMPD1 protein (p.Pro401Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMPD1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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