ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1265C>A (p.Thr422Lys) (rs868082421)

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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 RCV000609883 SCV000712349 uncertain significance not specified 2016-10-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Thr422Lys variant in TMC1 has been identified by our laboratory in 1 individual with hear ing loss and segregated in 2 affected family members. This variant has not been identified in large population studies. Computational prediction tools and cons ervation analyses do not provide strong support for or against an impact to the protein. In summary, while there is some suspicion for a pathogenic role, the cl inical significance of this variant is uncertain.

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