Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039626 | SCV000063315 | pathogenic | Rare genetic deafness | 2012-04-24 | criteria provided, single submitter | clinical testing | The Glu2459GlyfsX35 variant in GPR98 has not been reported in the literature nor previously identified by our laboratory. This frameshift variant is predicted t o alter the protein?s amino acid sequence beginning at position 2459 and lead to a premature termination codon 35 amino acids downstream. This alteration is the n predicted to lead to a truncated or absent protein. In summary, this variant m eets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) . |