ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1283C>T (p.Ala428Val) (rs727504824)

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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 RCV000156163 SCV000205879 uncertain significance not specified 2013-11-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Ala428Val v ariant in SLC26A4 has not been previously reported in individuals with hearing l oss or in large population studies. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Al a428Val variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. In summary, the clinical significance of th is variant cannot be determined with certainty; however based upon its presence in an individual with hearing loss and EVA, which is consistent with SLC26A4 rel ated hearing loss, and the computational data, we would lean towards a more like ly pathogenic role.

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