ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)

gnomAD frequency: 0.00019  dbSNP: rs747798210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199766 SCV000250686 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 213700; Landrum et al., 2016)
Invitae RCV000537625 SCV000637298 likely benign Shprintzen-Goldberg syndrome 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426933 SCV002731419 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-02-05 criteria provided, single submitter clinical testing The p.E725A variant (also known as c.2174A>C), located in coding exon 7 of the SKI gene, results from an A to C substitution at nucleotide position 2174. The glutamic acid at codon 725 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other 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.

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