Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |