Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Phosphorus, |
RCV000578022 | SCV000679807 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000578076 | SCV000679808 | uncertain significance | Familial hypobetalipoproteinemia 1 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367976 | SCV002624792 | uncertain significance | Cardiovascular phenotype | 2021-08-12 | criteria provided, single submitter | clinical testing | The p.Y129C variant (also known as c.386A>G), located in coding exon 5 of the APOB gene, results from an A to G substitution at nucleotide position 386. The tyrosine at codon 129 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |