Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002334434 | SCV002642603 | uncertain significance | Cardiovascular phenotype | 2017-10-10 | criteria provided, single submitter | clinical testing | The p.I3997V variant (also known as c.11989A>G), located in coding exon 28 of the APOB gene, results from an A to G substitution at nucleotide position 11989. The isoleucine at codon 3997 is replaced by valine, 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. |