ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.547G>A (p.Glu183Lys)

dbSNP: rs1290478159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315209 SCV000739634 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-14 criteria provided, single submitter clinical testing The p.E183K variant (also known as c.547G>A), located in coding exon 1 of the SKI gene, results from a G to A substitution at nucleotide position 547. The glutamic acid at codon 183 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000802297 SCV000942122 uncertain significance Shprintzen-Goldberg syndrome 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 183 of the SKI protein (p.Glu183Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SKI-related conditions. ClinVar contains an entry for this variant (Variation ID: 520166).

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