ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9956C>T (p.Pro3319Leu)

gnomAD frequency: 0.00001  dbSNP: rs761386458
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214018 SCV000272903 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing The p.Pro3319Leu variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/66704 of Eur opean chromosomes and 1/11500 Latino chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org). This variant is located in the last three bases of the exon, which is part of the 5? splice region. Computational t ools do not suggest an impact to splicing. However, this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the p.Pro3319Leu variant is uncertain.

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