ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) (rs367674026)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673923 SCV000799179 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-04-09 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075535 SCV001241161 pathogenic Retinal dystrophy 2018-12-05 criteria provided, single submitter clinical testing
Invitae RCV001212324 SCV001383904 pathogenic not provided 2020-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4608*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs367674026, ExAC 0.002%). This variant has been observed in individuals and families affected with Usher syndrome or retinitis pigmentosa (PMID: 28157192, 30459346, 24944099, 18273898). ClinVar contains an entry for this variant (Variation ID: 557745). 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 RCV001376439 SCV001573578 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.13822C>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.

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