ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)

dbSNP: rs762837293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383977 SCV001583308 pathogenic not provided 2021-04-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1913*) in the USH2A gene. It is expected to result in an absent or disrupted protein product.
Mendelics RCV002246368 SCV002519948 pathogenic Usher syndrome type 2A 2022-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002246368 SCV004181775 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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