ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)

dbSNP: rs1553320451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674037 SCV000799308 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868275 SCV002238872 pathogenic not provided 2020-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val874*) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 557846). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003453375 SCV004182423 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453374 SCV004182424 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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