ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)

dbSNP: rs1571701069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199587 SCV001162758 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
GeneDx RCV001008056 SCV001167789 pathogenic not provided 2018-12-19 criteria provided, single submitter clinical testing The c.1521_1522delTGinsAT (Y507X) variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Genome-Nilou Lab RCV003455055 SCV004182861 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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