ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.39del (p.Arg14fs)

dbSNP: rs2134004594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951425 SCV002241025 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2021-08-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg14Glyfs*63) 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). This variant is not present in population databases (ExAC no frequency). 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.
Baylor Genetics RCV003464327 SCV004205529 likely pathogenic Niemann-Pick disease, type A 2022-04-11 criteria provided, single submitter clinical testing

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