ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)

dbSNP: rs1657798642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055885 SCV001220299 pathogenic not provided 2022-06-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 851480). 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 sequence change creates a premature translational stop signal (p.Gln4680*) 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 (gnomAD no frequency).
Blueprint Genetics RCV001075003 SCV001240613 likely pathogenic Retinal dystrophy 2018-02-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455253 SCV004183105 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012499 SCV005638870 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-04-22 criteria provided, single submitter clinical testing

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