Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002807672 | SCV003577597 | uncertain significance | Inborn genetic diseases | 2024-10-15 | criteria provided, single submitter | clinical testing | The p.K383E variant (also known as c.1147A>G), located in coding exon 10 of the CEP57 gene, results from an A to G substitution at nucleotide position 1147. The lysine at codon 383 is replaced by glutamic 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. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV003528433 | SCV004344845 | uncertain significance | Mosaic variegated aneuploidy syndrome 2 | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CEP57-related conditions. 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. 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 CEP57 protein function. ClinVar contains an entry for this variant (Variation ID: 2255534). This variant is present in population databases (rs370861671, gnomAD 0.007%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 383 of the CEP57 protein (p.Lys383Glu). |