ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.33C>G (p.Phe11Leu)

dbSNP: rs1045231306
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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 RCV002452022 SCV002618360 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-06-06 criteria provided, single submitter clinical testing The p.F11L variant (also known as c.33C>G), located in coding exon 1 of the SKI gene, results from a C to G substitution at nucleotide position 33. The phenylalanine at codon 11 is replaced by leucine, an amino acid with highly 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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