ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.446+4A>T

gnomAD frequency: 0.00001  dbSNP: rs376253981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155299 SCV000204985 uncertain significance not specified 2014-07-14 criteria provided, single submitter clinical testing The 446+4A>T variant in TMPRSS3 gene has not been previously reported in individ uals with hearing loss, but has been identified in 1/8600 European American chro mosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbS NP rs376253981). This variant is located within the 5' splice consensus. Comput ational tools do not suggest an impact to splicing, though this information is n ot predictive enough to rule out pathogenicity. In summary, additional informati on is needed to fully assess the clinical significance of this variant.
PreventionGenetics, part of Exact Sciences RCV003907475 SCV004722051 likely benign TMPRSS3-related disorder 2019-07-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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