Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002348601 | SCV002653310 | uncertain significance | Cardiovascular phenotype | 2022-08-30 | criteria provided, single submitter | clinical testing | The p.V1895A variant (also known as c.5684T>C), located in coding exon 26 of the APOB gene, results from a T to C substitution at nucleotide position 5684. The valine at codon 1895 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine 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. |
Invitae | RCV003769889 | SCV004578067 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2022-11-06 | criteria provided, single submitter | clinical testing |