ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.141T>A (p.Asp47Glu) (rs140388347)

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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 RCV000041129 SCV000064820 uncertain significance not specified 2015-07-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp47Glu vari ant in TMC1 has not been previously reported in individuals with hearing loss. This variant has been identified in 0.2% (21/9910) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs140 388347). Computational prediction tools and conservation analyses suggest that t he Asp47Glu variant may not impact the protein, though this information is not p redictive enough to rule out pathogenicity. In summary, while the clinical sign ificance of the p.Asp47Glu variant is uncertain, these data suggest that it is m ore likely to be benign.

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