Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233962 | SCV000755919 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001571537 | SCV001796036 | uncertain significance | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ambry Genetics | RCV002438677 | SCV002754260 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-21 | criteria provided, single submitter | clinical testing | The p.M1006K variant (also known as c.3017T>A), located in coding exon 43 of the COL5A2 gene, results from a T to A substitution at nucleotide position 3017. The methionine at codon 1006 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |