Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003106054 | SCV003783698 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307409 | SCV003999451 | uncertain significance | Cardiovascular phenotype | 2023-06-16 | criteria provided, single submitter | clinical testing | The p.N3214S variant (also known as c.9641A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 9641. The asparagine at codon 3214 is replaced by serine, 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. |