ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr) (rs727503711)

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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 RCV000152550 SCV000201761 uncertain significance not specified 2013-08-19 criteria provided, single submitter clinical testing The Ala526Thr variant in USH1C has not been reported in individuals with hearing loss, and data from large population studies is insufficient to assess the freq uency of this variant. Computational analyses (biochemical amino acid properties , conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support fo r or against an impact to the normal function of the protein. In summary, additi onal studies are needed to fully assess the clinical significance of the Ala526T hr variant.

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