ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1848C>G (p.Ile616Met)

dbSNP: rs1044806468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552281 SCV000637288 uncertain significance Shprintzen-Goldberg syndrome 2017-05-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 616 of the SKI protein (p.Ile616Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SKI-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004678740 SCV005166721 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-23 criteria provided, single submitter clinical testing The p.I616M variant (also known as c.1848C>G), located in coding exon 6 of the SKI gene, results from a C to G substitution at nucleotide position 1848. The isoleucine at codon 616 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV005004227 SCV005628420 uncertain significance not provided 2024-07-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function

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