Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000591519 | SCV000709744 | likely pathogenic | Usher syndrome | 2018-03-07 | criteria provided, single submitter | clinical testing | The deletion encompassing exons 10 and 11 of USH2A has been reported in 3 individuals with Usher syndrome, all of whom were compound heterozygous (Baux 2014, LMM data). This variant has also been reported in 1/32850 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org), which is consistent with a recessive carrier frequency. The deletion of exons 10-11 is predicted to result in an in-frame deletion that would truncate the protein by 108 amino acids. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. |