Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002383984 | SCV002689693 | uncertain significance | Cardiovascular phenotype | 2020-06-16 | criteria provided, single submitter | clinical testing | The p.D4390H variant (also known as c.13168G>C), located in coding exon 29 of the APOB gene, results from a G to C substitution at nucleotide position 13168. The aspartic acid at codon 4390 is replaced by histidine, an amino acid with similar properties. This amino acid position is well 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. |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000508961 | SCV000605942 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |