Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197599 | SCV000250659 | uncertain significance | not provided | 2020-09-22 | 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 does not alter protein structure/function |
Invitae | RCV001857722 | SCV002209299 | benign | Shprintzen-Goldberg syndrome | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399730 | SCV002710025 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-09 | criteria provided, single submitter | clinical testing | The p.V525I variant (also known as c.1573G>A), located in coding exon 5 of the SKI gene, results from a G to A substitution at nucleotide position 1573. The valine at codon 525 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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. |
Ce |
RCV000197599 | SCV004032543 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SKI: BS2 |