ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)

dbSNP: rs1661140054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075028 SCV001240639 likely pathogenic Retinal dystrophy 2018-03-21 criteria provided, single submitter clinical testing
Invitae RCV002554736 SCV003233161 pathogenic not provided 2022-09-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 866748). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys3666*) 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).
Genome-Nilou Lab RCV003455390 SCV004182150 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing

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