ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.142A>C (p.Lys48Gln)

gnomAD frequency: 0.00003  dbSNP: rs946543006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498045 SCV000590265 uncertain significance not provided 2023-11-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000557338 SCV000637280 uncertain significance Shprintzen-Goldberg syndrome 2023-04-19 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. ClinVar contains an entry for this variant (Variation ID: 432531). This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 48 of the SKI protein (p.Lys48Gln).
Fulgent Genetics, Fulgent Genetics RCV000557338 SCV000896265 uncertain significance Shprintzen-Goldberg syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395205 SCV002698483 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-05 criteria provided, single submitter clinical testing The p.K48Q variant (also known as c.142A>C), located in coding exon 1 of the SKI gene, results from an A to C substitution at nucleotide position 142. The lysine at codon 48 is replaced by glutamine, an amino acid with 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.

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