ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1675A>C (p.Lys559Gln)

dbSNP: rs1391214846
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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 RCV004508414 SCV005020150 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-15 criteria provided, single submitter clinical testing The p.K559Q variant (also known as c.1675A>C), located in coding exon 5 of the SKI gene, results from an A to C substitution at nucleotide position 1675. The lysine at codon 559 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. 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.

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