ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1094A>G (p.Lys365Arg)

gnomAD frequency: 0.00001  dbSNP: rs1482153836
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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 RCV002448509 SCV002733662 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-21 criteria provided, single submitter clinical testing The p.K365R variant (also known as c.1094A>G), located in coding exon 2 of the SKI gene, results from an A to G substitution at nucleotide position 1094. The lysine at codon 365 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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.

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