Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002833700 | SCV003216735 | uncertain significance | Shprintzen-Goldberg syndrome | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 30 of the SKI protein (p.Ser30Asn). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SKI protein function. This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV003274046 | SCV004005023 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-05 | criteria provided, single submitter | clinical testing | The p.S30N variant (also known as c.89G>A), located in coding exon 1 of the SKI gene, results from a G to A substitution at nucleotide position 89. The serine at codon 30 is replaced by asparagine, an amino acid with highly 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. |