ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)

dbSNP: rs768367348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001725801 SCV001960895 pathogenic Usher syndrome type 2A 2021-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002032683 SCV002157180 pathogenic not provided 2022-05-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is present in population databases (rs768367348, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asn2710Glnfs*7) 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 RCV001725801 SCV004182842 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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