ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.766dup (p.Leu256fs)

dbSNP: rs1018556947
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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 RCV001389951 SCV001591511 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu256Profs*18) 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 variant has not been reported in the literature in individuals affected with SMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 813477). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001004579 SCV001163667 likely pathogenic Niemann-Pick disease, type A no assertion criteria provided clinical testing

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