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
Labcorp Genetics (formerly Invitae), Labcorp RCV000557338 SCV000637280 uncertain significance Shprintzen-Goldberg syndrome 2024-09-17 criteria provided, single submitter clinical testing 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SKI-related conditions. ClinVar contains an entry for this variant (Variation ID: 432531). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SKI protein function with a negative predictive value of 95%. 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.
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 2024-10-01 criteria provided, single submitter clinical testing The c.142A>C (p.K48Q) alteration is located in exon 1 (coding exon 1) of the SKI gene. This alteration results from a A to C substitution at nucleotide position 142, causing the lysine (K) at amino acid position 48 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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