ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)

dbSNP: rs1342372980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594397 SCV000700334 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV003767346 SCV004569720 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-07-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 496822). This variant is also known as P371S. This missense change has been observed in individual(s) with Niemann-Pick disease (PMID: 22818240). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 373 of the SMPD1 protein (p.Pro373Ser). For these reasons, this variant has been classified as Pathogenic. 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992340 SCV004810120 likely pathogenic Niemann-Pick disease, type A 2024-04-04 criteria provided, single submitter clinical testing

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