Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152548 | SCV000201759 | uncertain significance | not specified | 2014-04-12 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Ala560Pro varia nt in USH1C has not been previously reported in individuals with hearing loss, b ut has been identified in 3/4398 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu). The alanine (Ala) residue a t position 560 is not well conserved across species, with proline (Pro) present in several evolutionarily distant species at that position. In addition, computa tional prediction tools suggest this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the conservation and computational data, we would lean toward s a more likely benign role. |
Invitae | RCV000920509 | SCV001065877 | likely benign | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing |