ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) (rs869312180)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073289 SCV001238826 likely pathogenic Retinal dystrophy 2018-10-24 criteria provided, single submitter clinical testing
Invitae RCV001386897 SCV001587295 pathogenic not provided 2019-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1872Leufs*64) 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 retinal dystrophy (PMID: 26872967). ClinVar contains an entry for this variant (Variation ID: 224746). 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.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210302 SCV000259085 likely pathogenic Usher syndrome, type 2A 2015-03-03 no assertion criteria provided clinical testing

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