ClinVar Miner

Submissions for variant NM_002772.3(TMPRSS15):c.390G>A (p.Trp130Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002623304 SCV003505178 pathogenic not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp130*) in the TMPRSS15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMPRSS15 are known to be pathogenic (PMID: 11719902). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMPRSS15-related conditions. ClinVar contains an entry for this variant (Variation ID: 2186565). For these reasons, this variant has been classified as Pathogenic.

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