ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3381del (p.Thr1128fs)

dbSNP: rs2034948574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199589 SCV001162760 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001235575 SCV001408266 pathogenic not provided 2022-06-04 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: 813118). 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.Thr1128Profs*10) 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 RCV003455056 SCV004182346 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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