ClinVar Miner

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

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Total submissions: 3
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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 2019-03-07 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.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003274 SCV001161357 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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