ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1705A>G (p.Met569Val)

gnomAD frequency: 0.00001  dbSNP: rs1390123596
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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 RCV003306794 SCV004005011 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-03 criteria provided, single submitter clinical testing The p.M569V variant (also known as c.1705A>G), located in coding exon 5 of the SKI gene, results from an A to G substitution at nucleotide position 1705. The methionine at codon 569 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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