ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095708 SCV001251530 uncertain significance Deafness, autosomal recessive 8 criteria provided, single submitter research The TMPRSS3 c.1151T>A (p.M384K) missense variant has not been previously reported in individuals with hearing loss, and therefore has uncertain clinical significance.
GeneDx RCV001544971 SCV001764204 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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