ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1573G>A (p.Val525Ile)

gnomAD frequency: 0.00003  dbSNP: rs141961299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197599 SCV000250659 uncertain significance not provided 2020-09-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV001857722 SCV002209299 benign Shprintzen-Goldberg syndrome 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399730 SCV002710025 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-03-09 criteria provided, single submitter clinical testing The p.V525I variant (also known as c.1573G>A), located in coding exon 5 of the SKI gene, results from a G to A substitution at nucleotide position 1573. The valine at codon 525 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
CeGaT Center for Human Genetics Tuebingen RCV000197599 SCV004032543 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SKI: BS2

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