ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs)

dbSNP: rs2134009391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001999938 SCV002233635 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2021-03-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SMPD1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu162Trpfs*33) in the SMPD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801).

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