ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1992T>G (p.Cys664Trp) (rs727503487)

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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 RCV000152043 SCV000200633 uncertain significance not specified 2015-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Cys664Trp variant in TMC1 has not been reported in individuals hearing loss and was absen t from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this informat ion is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Cys 664Trp variant is uncertain.

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