Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Integrative and Experimental Genomics, |
RCV000172972 | SCV000212150 | likely benign | Hypercholesterolemia, familial, 1 | criteria provided, single submitter | research | ||
Invitae | RCV001837741 | SCV000541937 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426803 | SCV002743156 | uncertain significance | Cardiovascular phenotype | 2018-07-16 | criteria provided, single submitter | clinical testing | The p.V862A variant (also known as c.2585T>C), located in coding exon 17 of the APOB gene, results from a T to C substitution at nucleotide position 2585. The valine at codon 862 is replaced by alanine, an amino acid with similar properties. This variant was reported in an individual with premature myocardial infarction; however, it was reportedly was not found to segregate with elevated LDL-C levels in other family members (Brænne I et al. Eur. J. Hum. Genet., 2016 Feb;24:191-7). This amino acid position is not 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. |