Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |