ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1705A>G (p.Thr569Ala) (rs148971770)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215959 SCV000272506 uncertain significance not specified 2015-11-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr569Ala var iant in TMC1 has not been previously identified in individuals with hearing loss , but has been identified in 29/66722 European chromosomes by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148971770). Comput ational prediction tools and conservation analysis suggest that the p.Thr569Ala variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. In summary, while the clinical significance of t he p.Thr569Ala variant is uncertain, these data suggest that it is more likely t o be benign.

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