ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)

dbSNP: rs1847935299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390955 SCV001592862 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 280 of the SMPD1 protein (p.Asp280Ala). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SMPD1 function (PMID: 15877209). 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 expected to disrupt SMPD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1076908). This variant is also known as D278A. This missense change has been observed in individual(s) with Niemann-Pick disease (PMID: 15877209). It has also been observed to segregate with disease in related individuals.
Baylor Genetics RCV001831407 SCV005052850 pathogenic Niemann-Pick disease, type A 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831407 SCV002092249 pathogenic Niemann-Pick disease, type A 2017-03-17 no assertion criteria provided clinical testing

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