ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1415C>T (p.Ala472Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290256 SCV002579517 uncertain significance Shprintzen-Goldberg syndrome 2021-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003308103 SCV004005013 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-08 criteria provided, single submitter clinical testing The p.A472V variant (also known as c.1415C>T), located in coding exon 4 of the SKI gene, results from a C to T substitution at nucleotide position 1415. The alanine at codon 472 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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