ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1902C>G (p.Asn634Lys) (rs767285617)

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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 RCV000220237 SCV000272507 uncertain significance not specified 2015-02-26 criteria provided, single submitter clinical testing The p.Asn634Lys variant in TMC1 has not been previously reported in individuals with hearing loss or in large population studies. Asparagine (Asn) at position 6 34 is not conserved in mammals and 1 mammal (Pacific walrus) carries a lysine (L ys), raising the possibility that this change may be tolerated. Additional comp utational prediction tools do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the p.Asn634Lys varia nt is uncertain.

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