Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002334445 | SCV002639931 | uncertain significance | Cardiovascular phenotype | 2019-05-02 | criteria provided, single submitter | clinical testing | The p.L3931S variant (also known as c.11792T>C), located in coding exon 27 of the APOB gene, results from a T to C substitution at nucleotide position 11792. The leucine at codon 3931 is replaced by serine, an amino acid with dissimilar 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. |