ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1907G>A (p.Arg636His)

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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 RCV004821698 SCV005496414 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-11-13 criteria provided, single submitter clinical testing The p.R636H variant (also known as c.1907G>A), located in coding exon 6 of the SKI gene, results from a G to A substitution at nucleotide position 1907. The arginine at codon 636 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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