ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1576del (p.Ala526fs)

dbSNP: rs2134023240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001893706 SCV002167546 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2021-05-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SMPD1 protein. Other variant(s) that disrupt this region (p.Arg602Valfs*11) have been determined to be pathogenic (PMID: 27338287, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SMPD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala526Glnfs*87) in the SMPD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acid(s) of the SMPD1 protein.

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