ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) (rs397517990)

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Total submissions: 3
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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
Invitae RCV001057445 SCV001221940 pathogenic not provided 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 4763 of the USH2A protein (p.Gly4763Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individuals affected with Usher syndrome (PMID: 25649381, 27460420) and also segregated with Usher syndrome in a family. ClinVar contains an entry for this variant (Variation ID: 48433). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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