ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.841G>T (p.Gly281Trp) (rs397517842)

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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 RCV000041149 SCV000064840 uncertain significance not specified 2011-08-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Gly281Trp v ariant in TMC1 has not been previously seen at the LMM. This residue is conser ved in 11/11 ungapped vertebrate alignments, with non-conservation in two invert ebrate species (D. melanogaster, C. elegans). Computational predictions (PolyPh en, SIFT, AlignGVGD) suggest a deleterious or probably damaging impact of this m utation on TMC1 protein function. However there is no functional or segregatio n data in the literature supporting the pathogenicity of this variant. In summa ry, the clinical significance of this variant cannot be determined with certaint y at this time.

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