Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002430832 | SCV002740438 | uncertain significance | Cardiovascular phenotype | 2022-10-07 | criteria provided, single submitter | clinical testing | The p.R4G variant (also known as c.10C>G), located in coding exon 1 of the APOC2 gene, results from a C to G substitution at nucleotide position 10. The arginine at codon 4 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003108107 | SCV003779780 | uncertain significance | not provided | 2021-12-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 4 of the APOC2 protein (p.Arg4Gly). This variant is present in population databases (rs202190413, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with APOC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV005025825 | SCV005648353 | uncertain significance | Familial apolipoprotein C-II deficiency | 2024-06-18 | criteria provided, single submitter | clinical testing |