ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5880_5882CTT[2] (p.Phe1963del) (rs111033232)

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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 RCV000036213 SCV000059865 pathogenic Rare genetic deafness 2011-03-08 criteria provided, single submitter clinical testing The Phe1963del variant in MYO7A has been previously reported in the literature i n three individual with clinical features of Usher syndrome and was not identifi ed in 352 control chromosomes (Roux 2006, Baux 2008 ? unpublished data from the UMD database). Two of these individuals had a second MYO7A variant and one indiv idual was homozygous for this variant. In addition, our laboratory has detected this variant as a compound heterozygous variant in two sets of affected siblings . The Phe1963del variant is predicted to cause an inframe deletion, which alters the protein's amino acid sequence by removing the phenylalanine amino acid at p osition 1963. In summary, this variant meets our criteria to be classified as pa thogenic.

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