ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)

dbSNP: rs1571703770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986550 SCV001135569 pathogenic Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549669 SCV003352449 pathogenic not provided 2022-04-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg334Hisfs*3) 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). 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: 801621).
Genome-Nilou Lab RCV000986550 SCV004182917 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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