ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.175del (p.Ala59fs)

dbSNP: rs2134006179
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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 RCV001386058 SCV001586147 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-11-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073151). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala59Glnfs*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).
Baylor Genetics RCV003473962 SCV004203235 likely pathogenic Niemann-Pick disease, type A 2023-06-06 criteria provided, single submitter clinical testing

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