Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002540102 | SCV001035446 | benign | KBG syndrome | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363338 | SCV002666491 | uncertain significance | Inborn genetic diseases | 2018-06-22 | criteria provided, single submitter | clinical testing | The p.G2254R variant (also known as c.6760G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 6760. The glycine at codon 2254 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |