Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064110 | SCV001228986 | uncertain significance | Shprintzen-Goldberg syndrome | 2019-02-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SKI-related conditions. This variant is present in population databases (rs756571135, ExAC 0.01%). This sequence change replaces glycine with aspartic acid at codon 293 of the SKI protein (p.Gly293Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Gene |
RCV001760036 | SCV001989604 | uncertain significance | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004030522 | SCV004950895 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-10-30 | criteria provided, single submitter | clinical testing | The c.878G>A (p.G293D) alteration is located in exon 1 (coding exon 1) of the SKI gene. This alteration results from a G to A substitution at nucleotide position 878, causing the glycine (G) at amino acid position 293 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |