Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002290256 | SCV002579517 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-09-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003308103 | SCV004005013 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-08 | criteria provided, single submitter | clinical testing | The p.A472V variant (also known as c.1415C>T), located in coding exon 4 of the SKI gene, results from a C to T substitution at nucleotide position 1415. The alanine at codon 472 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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. |