ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1103del (p.Phe368fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466412 SCV004205531 likely pathogenic Niemann-Pick disease, type A 2022-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779123 SCV004594593 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-05-27 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Niemann-Pick disease (PMID: 32778503, 33675270). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe368Serfs*17) 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). For these reasons, this variant has been classified as Pathogenic.

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