ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.145A>C (p.Ile49Leu) (rs149947445)

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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 RCV000041131 SCV000064822 uncertain significance not specified 2016-04-05 criteria provided, single submitter clinical testing The p.Ile49Leu variant in TMC1 has been previously identified by our laboratory in the heterozygous state in 1 Caucasian individual with hearing loss. In additi on, this variant has been identified in 3/11148 of Latino chromosomes by the Exo me Aggregation Consortium (ExAC,; dbSNP rs1499474 45). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ile49Leu vari ant is uncertain.

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