Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246088 | SCV001419426 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451601 | SCV002738948 | uncertain significance | Inborn genetic diseases | 2020-10-21 | criteria provided, single submitter | clinical testing | The p.E860K variant (also known as c.2578G>A), located in coding exon 16 of the INF2 gene, results from a G to A substitution at nucleotide position 2578. The glutamic acid at codon 860 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well 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. |