ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.2044G>C (p.Glu682Gln) (rs199819595)

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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 RCV000041136 SCV000064827 uncertain significance not specified 2012-06-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu682Gln varia nt in TMC1 has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, conse rvation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Glu682Gln variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the arguments described above, we would lean towards a more likely benign role.

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