ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.7C>A (p.Pro3Thr) (rs569626109)

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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 RCV000156234 SCV000205950 uncertain significance not specified 2013-12-31 criteria provided, single submitter clinical testing The Pro3Thr variant in TMC1 has not been previously reported in the literature o r in large population studies. Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong su pport for or against an impact to the protein. In summary, additional informatio n is needed to fully assess the clinical significance of the Pro3Thr variant.

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