ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)

dbSNP: rs1657997730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074890 SCV001240494 likely pathogenic Retinal dystrophy 2019-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001211797 SCV001383355 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr4100*) 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 866677). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003455387 SCV004182020 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455387 SCV004208221 pathogenic Retinitis pigmentosa 39 2023-10-03 criteria provided, single submitter clinical testing

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