ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1534C>T (p.Arg512Ter) (rs200171616)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657658 SCV000779406 pathogenic not provided 2018-05-11 criteria provided, single submitter clinical testing The R512X variant in the TMC1 gene has been reported previously in the homozygous state in an individual with hearing loss (Kurima et al., 2002). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R512X variant is observed in 88/25790 (0.34%) alleles from individuals of Finnish background, in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). We interpret R512X as a pathogenic variant.

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