Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001929165 | SCV002200921 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-09-28 | criteria provided, single submitter | clinical testing | 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 (ExAC no frequency). This sequence change replaces valine with methionine at codon 114 of the SKI protein (p.Val114Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. |
Ambry Genetics | RCV004044214 | SCV005020155 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-10 | criteria provided, single submitter | clinical testing | The p.V114M variant (also known as c.340G>A), located in coding exon 1 of the SKI gene, results from a G to A substitution at nucleotide position 340. The valine at codon 114 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |