Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040214 | SCV000063905 | uncertain significance | not specified | 2012-03-21 | criteria provided, single submitter | clinical testing | The Arg11159Gly variant has not been reported in the literature nor previously i dentified by our laboratory. Computational analyses (biochemical amino acid prop erties, conservation, PolyPhen2, and SIFT) suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. Additional information is needed to fully assess the clinical signific ance of the Arg11159Gly variant. |