ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.486-14G>A (rs374536346)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414183 SCV000490866 pathogenic not provided 2015-07-01 criteria provided, single submitter clinical testing The c.486-14 G>A splice site variant in the USH2A gene has been previously reported in association with Usher syndrome type 2A (Le Guedard-Mereuze et al., 2010; Baux et al., 2014). This variant reduces the quality of the splice acceptor site in intron 2, and is expected to cause abnormal gene splicing. Specifically, it is predicted that a de novo splice acceptor site is created that competes with the authentic 3' splice site and that the use of this upstream de novo 3' splice site causes an insertion of intronic sequences into the mature transcripts (Le Guedard-Mereuze et al., 2010). Therefore, we interpret this variant as pathogenic.
Counsyl RCV000673542 SCV000798754 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-23 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678652 SCV000804743 pathogenic Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing

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