ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) (rs757682417)

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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 RCV000213445 SCV000272883 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing The p.Met3392Lys variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/11462 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org). Computational prediction tools and conservation analysis suggest that t his variant may not impact the protein, though this information is not predictiv e enough to rule out pathogenicity. In summary, the clinical significance of the p.Met3392Lys variant is uncertain.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270140 SCV001449036 uncertain significance Usher syndrome 2019-06-04 criteria provided, single submitter clinical testing

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