ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) (rs772100045)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671836 SCV000796860 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000671836 SCV000893285 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000795361 SCV000934820 pathogenic not provided 2019-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3157*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772100045, ExAC 0.03%). This variant has been observed in individuals affected with Usher syndrome or inherited retinal dystrophy (PMID: 23737954, 25356976, 26338283). ClinVar contains an entry for this variant (Variation ID: 555916). 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.

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