ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs)

dbSNP: rs2134023663
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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 RCV001931301 SCV002207474 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-04-06 criteria provided, single submitter clinical testing 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.Arg610del) have been determined to be pathogenic (PMID: 1885770, 8225311, 12694237, 19405096, 23252888, 24643943). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1430049). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn549Glnfs*30) in the SMPD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the SMPD1 protein.

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