ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1380del (p.His461fs)

dbSNP: rs1848061158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244445 SCV001417665 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-04-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His461Metfs*14) 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: 15221801). ClinVar contains an entry for this variant (Variation ID: 969162). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001311731 SCV001502023 pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829931 SCV002092273 pathogenic Niemann-Pick disease, type A 2017-03-17 no assertion criteria provided clinical testing

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