Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198093 | SCV000250017 | uncertain significance | not provided | 2023-08-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002229102 | SCV000631591 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321788 | SCV002607740 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-11-29 | criteria provided, single submitter | clinical testing | The p.T1057N variant (also known as c.3170C>A), located in coding exon 45 of the COL5A2 gene, results from a C to A substitution at nucleotide position 3170. The threonine at codon 1057 is replaced by asparagine, 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. |