ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) (rs1369414978)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000586218 SCV000693890 likely pathogenic Retinitis pigmentosa 39 2017-06-26 criteria provided, single submitter research The p.Arg2894Lys variant has been reported before in 1 patient. It is in the Fibronectin-15 domain, in trans to a pathogenic frameshift variant (p.R2853Ifs*5) (PM3). In silico predicts that it will be deleterious and will disrupt splicing because it is at the first position in an exon (PP3). Only seen once in genomes in gnomAD (PM2).
Blueprint Genetics RCV001073311 SCV001238849 pathogenic Retinal dystrophy 2018-11-09 criteria provided, single submitter clinical testing

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