ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)

gnomAD frequency: 0.00001  dbSNP: rs1394737087
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669105 SCV000793810 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-08-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001727791 SCV001976404 pathogenic Retinitis pigmentosa 39 2021-09-21 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_206933.4:c.2023C>T.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531217 SCV003523494 pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln933*) 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 premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 10909849). ClinVar contains an entry for this variant (Variation ID: 553620). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001727791 SCV004182393 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453279 SCV004182394 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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