ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.1120G>A (p.Val374Met)

gnomAD frequency: 0.00002  dbSNP: rs775508015
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Total submissions: 3
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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 RCV000609991 SCV000731602 uncertain significance not specified 2017-05-21 criteria provided, single submitter clinical testing The p.Val375Met variant in TMPRSS3 has not been previously reported in individua ls with hearing loss, but has been identified in 3/111694 European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs775508015). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, the clinical significance of the p.V al375Met variant is uncertain.
Ambry Genetics RCV002528779 SCV003711305 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.1123G>A (p.V375M) alteration is located in exon 11 (coding exon 10) of the TMPRSS3 gene. This alteration results from a G to A substitution at nucleotide position 1123, causing the valine (V) at amino acid position 375 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003222059 SCV003918737 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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