ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)

dbSNP: rs761075303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376286 SCV001573375 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.5530C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001380848 SCV001579033 pathogenic not provided 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1844*) 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: 1065688). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001376286 SCV004181794 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001376286 SCV004208414 likely pathogenic Retinitis pigmentosa 39 2024-03-18 criteria provided, single submitter clinical testing

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