ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)

dbSNP: rs1657996197
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199573 SCV001162719 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Invitae RCV001064224 SCV001229110 pathogenic not provided 2022-11-03 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: 813108). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly4112Trpfs*41) 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).
Genome-Nilou Lab RCV003455051 SCV004182015 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455051 SCV004208316 pathogenic Retinitis pigmentosa 39 2023-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827167 SCV002088312 pathogenic Usher syndrome type 2A 2021-06-11 no assertion criteria provided clinical testing

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