ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)

dbSNP: rs1554933780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669272 SCV000794009 likely pathogenic Niemann-Pick disease, type A 2017-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767973 SCV004574364 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp32*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Niemann-Pick disease (PMID: 32778503). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 553755). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000669272 SCV005052845 pathogenic Niemann-Pick disease, type A 2024-02-25 criteria provided, single submitter clinical testing

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