Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002419483 | SCV002678223 | uncertain significance | Cardiovascular phenotype | 2022-03-03 | criteria provided, single submitter | clinical testing | The p.G27D variant (also known as c.80G>A), located in coding exon 1 of the PCSK9 gene, results from a G to A substitution at nucleotide position 80. The glycine at codon 27 is replaced by aspartic acid, an amino acid with similar 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. |
| Color Diagnostics, |
RCV003581847 | SCV004358020 | uncertain significance | Familial hypercholesterolemia | 2022-11-07 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with aspartic acid at codon 27 of the PCSK9 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PCSK9-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005239403 | SCV005884709 | uncertain significance | not specified | 2024-12-06 | criteria provided, single submitter | clinical testing |