ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr)

dbSNP: rs1947056659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001327987 SCV001512935 likely pathogenic Autosomal dominant nonsyndromic hearing loss 12 2020-03-26 criteria provided, single submitter clinical testing This variant is absent from control studies, it is predicted to be damaging as it affects a highly conserved amino acid in a functional domain of the protein. In summary and using ACMG criteria PM1, PM2, PM5, PP2, PP3 we classify this variant as Likely Pathogenic.

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