ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.725dup (p.Ser243fs)

dbSNP: rs1195779037
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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 RCV001075269 SCV001240884 likely pathogenic Retinal dystrophy 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554754 SCV003000124 pathogenic not provided 2025-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser243Lysfs*80) 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 present in population databases (no rsID available, gnomAD 0.006%). 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: 866898). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003455411 SCV004182954 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455411 SCV004200702 likely pathogenic Retinitis pigmentosa 39 2024-03-05 criteria provided, single submitter clinical testing

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