ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.304G>A (p.Glu102Lys)

dbSNP: rs1638570854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316815 SCV001507451 uncertain significance Shprintzen-Goldberg syndrome 2022-10-02 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SKI protein function. ClinVar contains an entry for this variant (Variation ID: 1017638). 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). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 102 of the SKI protein (p.Glu102Lys).
Ambry Genetics RCV002447341 SCV002754119 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-17 criteria provided, single submitter clinical testing The p.E102K variant (also known as c.304G>A), located in coding exon 1 of the SKI gene, results from a G to A substitution at nucleotide position 304. The glutamic acid at codon 102 is replaced by lysine, an amino acid with 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.

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