Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001805125 | SCV002052017 | uncertain significance | Familial hypercholesterolemia | 2023-11-22 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with leucine at codon 144 of the LDLR protein. This variant is also known as p.Pro123Leu in the mature protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LDLR-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. |
| Fulgent Genetics, |
RCV000508823 | SCV002792807 | uncertain significance | Hypercholesterolemia, familial, 1 | 2021-07-12 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003328591 | SCV004035576 | uncertain significance | not provided | 2023-09-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as p.(P123L); This variant is associated with the following publications: (PMID: 30583242, 34906454, 32719484) |
| Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000508823 | SCV000606118 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |