ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1601A>G (p.Tyr534Cys) (rs570446209)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156922 SCV000206643 uncertain significance not specified 2014-11-28 criteria provided, single submitter clinical testing The p.Tyr534Cys variant in USH2A has not been previously reported in individuals with hearing loss but was reported in 1/11540 Latino chromosomes by the Exome A ggregation Consortium (http://exac.broadinstitute.org). Although this variant ha s been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that the p.Tyr534Cys variant may impact the protein, though this informa tion is not predictive enough to determine pathogenicity. In summary, the clinic al significance of the p.Tyr534Cys variant is uncertain.
Counsyl RCV000669395 SCV000794143 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-15 criteria provided, single submitter clinical testing

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