ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)

dbSNP: rs2134013368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV001527422 SCV001738422 pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research
Invitae RCV002568858 SCV003439606 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-09-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 363 of the SMPD1 protein (p.Leu363Arg). 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: 34273913). 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: 1173970). This missense change has been observed in individual(s) with Niemann-Pick disease (PMID: 27338287, 34273913).

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