ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15371del (p.Leu5124fs)

dbSNP: rs1656163649
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223561 SCV001395717 pathogenic not provided 2019-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with USH2A-related conditions. 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu5124Argfs*11) in the USH2A gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002497762 SCV002811206 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2021-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449706 SCV004182808 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449705 SCV004182819 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449706 SCV004206373 likely pathogenic Retinitis pigmentosa 39 2022-12-02 criteria provided, single submitter clinical testing

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