ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15574A>G (p.Lys5192Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340792 SCV004047514 uncertain significance Retinitis pigmentosa 39 criteria provided, single submitter clinical testing The variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The amino acid Lys at position 5192 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is conserved across species. The amino acid change p.Lys5192Glu in USH2A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The p.Lys5192Glu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. For these reasons, this variant has been classified as uncertain significance .

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