ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14287G>A (p.Gly4763Arg) (rs397517990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041756 SCV000065452 likely pathogenic Rare genetic deafness 2010-09-27 criteria provided, single submitter clinical testing The Gly4763Arg variant in USH2A has been reported in an individual with Usher sy ndrome and in an individual with nonsyndromic retinitis pigmentosa (McGee 2010). In addition, this residue is conserved in mammals. Furthermore, we have identif ied the Gly4763Arg variant in combination with a pathogenic USH2A variant in two siblings with Usher syndrome. In summary, this variant is likely to be pathogen ic.
Counsyl RCV000665736 SCV000789903 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-09 criteria provided, single submitter clinical testing

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