ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1825A>G (p.Lys609Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005279429 SCV005943519 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-12-28 criteria provided, single submitter clinical testing The p.K609E variant (also known as c.1825A>G), located in coding exon 6 of the SKI gene, results from an A to G substitution at nucleotide position 1825. The lysine at codon 609 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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