ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)

dbSNP: rs1662226257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262309 SCV001440125 likely pathogenic Retinitis pigmentosa 39 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Labcorp Genetics (formerly Invitae), Labcorp RCV002537633 SCV003352451 pathogenic not provided 2022-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3255*) 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: 982688). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001262309 SCV004182667 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing

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