Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001936845 | SCV002225629 | uncertain significance | Cholestanol storage disease | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 157 of the CYP27A1 protein (p.Leu157Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV002334945 | SCV002637943 | uncertain significance | Cardiovascular phenotype | 2022-06-12 | criteria provided, single submitter | clinical testing | The p.L157P variant (also known as c.470T>C), located in coding exon 3 of the CYP27A1 gene, results from a T to C substitution at nucleotide position 470. The leucine at codon 157 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |