ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)

dbSNP: rs2134006149
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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 RCV001863466 SCV002114574 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp56*) 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: 1353540). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464168 SCV004205521 pathogenic Niemann-Pick disease, type A 2023-01-30 criteria provided, single submitter clinical testing

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