ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) (rs782503314)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666700 SCV000791039 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-04-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222692 SCV000272147 uncertain significance not specified 2016-01-15 criteria provided, single submitter clinical testing The p.Arg649Trp variant in MYO7A has been reported in one paper without clinical information (Cremers 2007) and has been identified in 1/24258 European chromoso mes and 1/2556 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the gen eral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that the p.Arg 649Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg649Trp variant is uncertain.

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