ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1108dup (p.Ala370fs)

dbSNP: rs1590743683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794074 SCV000933458 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2018-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801). This variant has not been reported in the literature in individuals with SMPD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala370Glyfs*21) in the SMPD1 gene. It is expected to result in an absent or disrupted protein product.

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