ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2147A>T (p.Glu716Val)

dbSNP: rs2521524370
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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 RCV004508421 SCV005019555 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-22 criteria provided, single submitter clinical testing The p.E716V variant (also known as c.2147A>T), located in coding exon 7 of the SKI gene, results from an A to T substitution at nucleotide position 2147. The glutamic acid at codon 716 is replaced by valine, an amino acid with dissimilar 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 alteration remains unclear.

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