ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3661C>T (p.Gln1221Ter) (rs767797828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068678 SCV001233803 pathogenic not provided 2019-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1221*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs767797828, ExAC 0.006%). This variant has been observed in individual(s) with hearing loss (PMID: 30303587). ClinVar contains an entry for this variant (Variation ID: 560919). 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.
Center for Statistical Genetics, Columbia University RCV000679847 SCV000804838 pathogenic Deafness 2018-09-10 no assertion criteria provided research

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