ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)

dbSNP: rs868562952
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669090 SCV000793794 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-08-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001727790 SCV001976405 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.2797C>T.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861774 SCV002221743 pathogenic not provided 2022-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln675*) 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 USH2A-related conditions (PMID: 10909849, 29625443). ClinVar contains an entry for this variant (Variation ID: 553607). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001727790 SCV004182470 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453278 SCV004182471 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001727790 SCV004208298 pathogenic Retinitis pigmentosa 39 2023-08-30 criteria provided, single submitter clinical testing

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