ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2809+2T>A (rs1553320397)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599015 SCV000710709 likely pathogenic not provided 2018-02-16 criteria provided, single submitter clinical testing The c.2809+2T>A splice site variant in the USH2A gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant destroys the canonical splice donor site in intron 13, and is expected to cause abnormal gene splicing. This variant is not observed in large population cohorts (Lek et al., 2016). Based on currently available evidence, we consider c.2809+2T>A to be a likely pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000605844 SCV000731690 pathogenic Rare genetic deafness 2017-06-20 criteria provided, single submitter clinical testing The c.2809+2T>A variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome and is absent from large population databas es. This variant occurs in the invariant region (+/- 1,2) of the splice consensu s sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function is an established disease mechanism for autosom al recessive Usher syndrome. In summary, the c.2809+2T>A variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome based on the predicted impact to splicing.

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