ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)

dbSNP: rs1571929573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008020 SCV001167752 pathogenic not provided 2019-03-19 criteria provided, single submitter clinical testing The Q4789X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The Q4789X variant in the USH2A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret Q4789X as a pathogenic variant.
The Shared Resource Centre "Genome", Research Centre for Medical Genetics RCV002462254 SCV002756440 pathogenic Usher syndrome type 2A 2022-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002462254 SCV004183074 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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