Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758752 | SCV000887566 | uncertain significance | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352268 | SCV002655141 | uncertain significance | Cardiovascular phenotype | 2023-02-03 | criteria provided, single submitter | clinical testing | The p.E4050K variant (also known as c.12148G>A), located in coding exon 29 of the APOB gene, results from a G to A substitution at nucleotide position 12148. The glutamic acid at codon 4050 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine 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. |