Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002002847 | SCV002255372 | uncertain significance | Cholestanol storage disease | 2023-07-07 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs767162764, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 507 of the CYP27A1 protein (p.Glu507Val). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1472231). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CYP27A1 protein function. 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 | RCV004990520 | SCV005569583 | uncertain significance | Cardiovascular phenotype | 2024-08-28 | criteria provided, single submitter | clinical testing | The p.E507V variant (also known as c.1520A>T), located in coding exon 9 of the CYP27A1 gene, results from an A to T substitution at nucleotide position 1520. The glutamic acid at codon 507 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |