ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.2068G>A (p.Ala690Thr) (rs397517838)

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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 RCV000041137 SCV000064828 uncertain significance not specified 2010-07-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala690Thr varia nt has not been reported in the literature nor previously identified by our labo ratory. This residue is conserved in mammals; however, it is not conserved in ch ickens and computational analyses (PolyPhen, SIFT, AlignGVGD) do not suggest a h igh likelihood of impact to the protein. However, this information is not very p redictive of pathogenicity. It should be noted that this lab has only sequenced the TMC1 in 104 individuals such that the full spectrum of benign variation has not yet been defined for this gene, increasing the possibility that this may be a benign variant. In summary, the clinical significance of this variant cannot b e determined with certainty at this time; however based upon the arguments descr ibed above, we would lean towards a more likely benign role.

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