ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.1A>G (p.Met1Val)

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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 RCV002796876 SCV003202361 pathogenic not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TMPRSS3 mRNA. The next in-frame methionine is located at codon 128. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TMPRSS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1995820). This variant disrupts a region of the TMPRSS3 protein in which other variant(s) (p.Arg106Cys) have been determined to be pathogenic (PMID: 23967202, 28246597). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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