ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)

gnomAD frequency: 0.00002  dbSNP: rs752148586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251129 SCV001426623 pathogenic Niemann-Pick disease, type B criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001366811 SCV001563128 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-08-29 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with acid sphingomyelinase deficiency (PMID: 15241805, 32860008, 33675270). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SMPD1 function (PMID: 16010684). 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: 813478). This variant is also known as A281T. This variant is present in population databases (rs752148586, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 283 of the SMPD1 protein (p.Ala283Thr).
Baylor Genetics RCV001004580 SCV001163668 pathogenic Niemann-Pick disease, type A 2022-01-28 no assertion criteria provided clinical testing

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