ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5278del (p.Asp1760fs) (rs754374132)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671172 SCV000796123 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-07 criteria provided, single submitter clinical testing
Mendelics RCV000986535 SCV001135552 pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001060498 SCV001225191 pathogenic not provided 2020-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1760Metfs*10) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754374132, ExAC 0.02%). This variant has been observed in individuals affected with USH2A-related conditions (PMID: 22004887, 25404053, 26969326). ClinVar contains an entry for this variant (Variation ID: 555362). 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.
Blueprint Genetics RCV001073368 SCV001238909 pathogenic Retinal dystrophy 2019-01-04 criteria provided, single submitter clinical testing

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