ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) (rs747063294)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669826 SCV000794616 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-04 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074508 SCV001240095 pathogenic Retinal dystrophy 2017-12-07 criteria provided, single submitter clinical testing
Invitae RCV001380767 SCV001578925 pathogenic not provided 2020-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4711*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747063294, ExAC 0.001%). This variant has been observed in individual(s) with Usher syndrome (PMID: 28559085, 25097241). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554236). 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.
Clinical Genetics,Academic Medical Center RCV001380767 SCV001919232 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001380767 SCV001958101 pathogenic not provided no assertion criteria provided clinical testing

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