ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)

dbSNP: rs766491471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814161 SCV000954562 pathogenic not provided 2023-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp4285*) 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 present in population databases (rs766491471, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 657539). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005021234 SCV005645522 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-05-20 criteria provided, single submitter clinical testing

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