ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8546G>T (p.Gly2849Val) (rs1064794034)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483762 SCV000567638 pathogenic not provided 2015-08-18 criteria provided, single submitter clinical testing The G2849V variant has been reported previously in an individual who also harbored a frameshiftvariant and who was diagnosed with recessive retinal disease (Lenassi et al., 2015). The G2849Vsubstitution was not observed in approximately 6,500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The G2849V variant is a conservative amino acid substitution that occurs at a position that is conservedacross species. In silico analysis predicts this substitution is probably damaging to the proteinstructure/function. Therefore, we interpret G2849V as a pathogenic variant.

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