ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)

gnomAD frequency: 0.00005  dbSNP: rs184351619
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956100 SCV002247065 pathogenic not provided 2024-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser4830*) 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 (rs184351619, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 18273898). ClinVar contains an entry for this variant (Variation ID: 1457880). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497885 SCV002811485 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-06-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453877 SCV004183055 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453876 SCV004183056 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003453876 SCV005051987 pathogenic Usher syndrome type 2A 2024-02-01 criteria provided, single submitter curation
Baylor Genetics RCV003453877 SCV005055784 pathogenic Retinitis pigmentosa 39 2023-11-09 criteria provided, single submitter clinical testing

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