ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)

dbSNP: rs2037013894
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238478 SCV001411290 pathogenic not provided 2019-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu609*) in the USH2A gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002504336 SCV002816139 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449740 SCV004182494 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449739 SCV004182496 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449740 SCV004208202 pathogenic Retinitis pigmentosa 39 2023-10-09 criteria provided, single submitter clinical testing

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