ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)

gnomAD frequency: 0.00001  dbSNP: rs1064797134
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488256 SCV000574815 likely pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000667007 SCV000791393 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000488256 SCV001590414 pathogenic not provided 2023-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2841*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Usher syndrome and retinitis pigmentosa (PMID: 26969326, 27353947, 27460420, 28559085, 30924848). ClinVar contains an entry for this variant (Variation ID: 424934). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003449252 SCV004182796 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834579 SCV004182798 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449252 SCV004208348 pathogenic Retinitis pigmentosa 39 2024-02-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834579 SCV002090818 pathogenic Usher syndrome type 2A 2020-09-22 no assertion criteria provided clinical testing

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