Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985341 | SCV001133423 | uncertain significance | not provided | 2019-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427436 | SCV002681175 | uncertain significance | Cardiovascular phenotype | 2022-10-03 | criteria provided, single submitter | clinical testing | The p.N2727K variant (also known as c.8181C>A), located in coding exon 26 of the APOB gene, results from a C to A substitution at nucleotide position 8181. The asparagine at codon 2727 is replaced by lysine, 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. |