ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)

gnomAD frequency: 0.00002  dbSNP: rs759365458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825495 SCV000966798 uncertain significance not specified 2018-09-12 criteria provided, single submitter clinical testing The p.Cys3016Tyr variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 0.07% (13/1884 4) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, the clinical significance of the p.Cys3016Tyr variant is uncertain. ACMG/AMP Criteria applied: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001038198 SCV001201659 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273707 SCV001457077 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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