Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480486 | SCV000573717 | uncertain significance | not provided | 2020-08-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001088256 | SCV000765713 | likely benign | Arterial tortuosity syndrome | 2023-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302717 | SCV003999282 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-09 | criteria provided, single submitter | clinical testing | The p.D292E variant (also known as c.876C>A), located in coding exon 2 of the SLC2A10 gene, results from a C to A substitution at nucleotide position 876. The aspartic acid at codon 292 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly 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. |