ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)

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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 RCV002428183 SCV002729731 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-26 criteria provided, single submitter clinical testing The p.S363T variant (also known as c.1087T>A), located in coding exon 2 of the SKI gene, results from a T to A substitution at nucleotide position 1087. The serine at codon 363 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Invitae RCV003517430 SCV004270312 uncertain significance Shprintzen-Goldberg syndrome 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 363 of the SKI protein (p.Ser363Thr). This variant is present in population databases (rs375569215, gnomAD 0.004%). 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: 1788038). 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. 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.

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