ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) (rs1177198729)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666713 SCV000791056 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV001065685 SCV001230656 pathogenic not provided 2019-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1392*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Usher syndrome (PMID: 16963483). ClinVar contains an entry for this variant (Variation ID: 551604). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376203 SCV001573259 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.4174G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003274 SCV001161357 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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