ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)

dbSNP: rs1438734382
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002040066 SCV002108716 pathogenic not provided 2023-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1352951). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln927*) 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).
GeneDx RCV002040066 SCV003805758 likely pathogenic not provided 2022-04-15 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 at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003451986 SCV004182398 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451985 SCV004182399 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003451986 SCV004208347 pathogenic Retinitis pigmentosa 39 2023-08-07 criteria provided, single submitter clinical testing
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002307769 SCV002600234 pathogenic Usher syndrome type 2 2022-11-14 no assertion criteria provided clinical testing Novel pathogenic variant. PVS1, PM2, PP5, PP4, PM3.

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