ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.403G>A (p.Gly135Arg) (rs397517841)

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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 RCV000041142 SCV000064833 uncertain significance not specified 2011-02-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly135Arg varia nt in TMC1 has not been reported in the literature nor previously identified by our laboratory. This residue is conserved across mammals and birds and computati onal analyses (PolyPhen2, SIFT) suggest that the Gly135Arg variant may impact th e protein. However, this information is not predictive enough to assume pathogen icity. In summary, the clinical significance of this variant cannot be determine d with certainty at this time.

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