ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) (rs200712760)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485043 SCV000566980 pathogenic not provided 2021-07-19 criteria provided, single submitter clinical testing Observed multiple times with a pathogenic variant in unrelated patients with Usher syndrome type II in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in some cases (Wang et al., 2018; Vache et al., 2010; Jaijo et al., 2010); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20513143, 31674169, 30029497, 20507924, 18641288, 19683999, 27535533, 28653555, 25525159)
Invitae RCV000485043 SCV001590417 pathogenic not provided 2020-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2723*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200712760, ExAC 0.01%). This variant has been observed in individual(s) with Usher syndrome, type 2 (PMID: 19683999, 28653555). ClinVar contains an entry for this variant (Variation ID: 419282). 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.
Counsyl RCV000984316 SCV001132501 pathogenic Usher syndrome, type 2A 2017-10-25 no assertion criteria provided clinical testing
Counsyl RCV000984317 SCV001132502 pathogenic Retinitis pigmentosa 39 2017-10-25 no assertion criteria provided clinical testing

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