ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002991766 SCV003312560 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-02-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SMPD1 protein in which other variant(s) (p.Arg602Valfs*11) have been determined to be pathogenic (PMID: 27338287; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr519*) in the SMPD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 113 amino acid(s) of the SMPD1 protein.

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