ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu)

dbSNP: rs71467507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594768 SCV000703023 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing
Invitae RCV002531016 SCV003296631 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 38 of the SMPD1 protein (p.Ala38Glu). This variant is present in population databases (rs78250081, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 498150). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SMPD1 protein function. 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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