Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230788 | SCV000547881 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168797 | SCV003912713 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-17 | criteria provided, single submitter | clinical testing | The p.P341S variant (also known as c.1021C>T), located in coding exon 16 of the COL5A2 gene, results from a C to T substitution at nucleotide position 1021. The proline at codon 341 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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. |