ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter)

dbSNP: rs775921966
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553487 SCV001774367 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV001553487 SCV002128243 pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1192143). This sequence change creates a premature translational stop signal (p.Lys2695*) 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. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003451808 SCV004182848 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003451808 SCV005055741 likely pathogenic Retinitis pigmentosa 39 2024-01-13 criteria provided, single submitter clinical testing

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