ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)

dbSNP: rs1470998208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004582 SCV001163672 likely pathogenic Niemann-Pick disease, type A criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862735 SCV002233228 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 813479). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp342*) 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).

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