Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152634 | SCV000201956 | uncertain significance | not specified | 2014-12-24 | criteria provided, single submitter | clinical testing | The p.Asp528Asn variant in USH2A has not been previously reported in individuals with hearing loss but has been identified in 3/122780 chromosomes by the Exome Aggregation consortium (ExAC, http://exac.broadinstitute.org). Although this var iant was seen in the general population, its frequency is not high enough to rul e out a pathogenic role. The aspartic acid (Asp) residue at position 528 is mode rately conserved in mammals and evolutionary distant species, but two mammals (s quirrel and Cape golden mole) carry Asparagine (Asn), raising the possibility th at this change may be tolerated. Additional computational prediction tools do no t provide strong support for or against an impact to the protein. In summary, th e clinical significance of the in p.Asp528Asn variant is uncertain. |
Counsyl | RCV000668649 | SCV000793283 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453142 | SCV004182523 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001831944 | SCV004182524 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723717 | SCV001958332 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723717 | SCV001965062 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001831944 | SCV002093981 | uncertain significance | Usher syndrome type 2A | 2020-10-12 | no assertion criteria provided | clinical testing |