ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)

dbSNP: rs200763423
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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 RCV001933891 SCV002205058 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-05-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu248*) 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 premature translational stop signal has been observed in individual(s) with Niemann-Pick disease type A (PMID: 23356216). ClinVar contains an entry for this variant (Variation ID: 1427800). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571634 SCV005052849 pathogenic Niemann-Pick disease, type A 2024-02-08 criteria provided, single submitter clinical testing

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