Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002020541 | SCV002306620 | uncertain significance | not provided | 2025-01-23 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 395 of the CETP protein (p.Lys395Arg). This variant is present in population databases (rs770008221, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CETP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1511693). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CETP protein function with a positive predictive value of 80%. 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 | RCV004897728 | SCV005556277 | uncertain significance | not specified | 2024-09-10 | criteria provided, single submitter | clinical testing | The c.1184A>G (p.K395R) alteration is located in exon 12 (coding exon 12) of the CETP gene. This alteration results from a A to G substitution at nucleotide position 1184, causing the lysine (K) at amino acid position 395 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |