Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041852 | SCV000065548 | pathogenic | Rare genetic deafness | 2013-03-11 | criteria provided, single submitter | clinical testing | The Gly1668fs variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. This frameshift variant is predicted to alte r the protein?s amino acid sequence beginning at position 1668 and lead to a pre mature termination codon 30 amino acids downstream. This alteration is then pred icted to lead to a truncated or absent protein. Therefore, this variant meets ou r criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM). |