Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000699935 | SCV000828667 | uncertain significance | Mosaic variegated aneuploidy syndrome 2 | 2022-04-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 387 of the CEP57 protein (p.Glu387Ala). This variant is present in population databases (rs749225516, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CEP57-related conditions. ClinVar contains an entry for this variant (Variation ID: 577240). 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: "Tolerated"; 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 | RCV004972880 | SCV005561074 | uncertain significance | Inborn genetic diseases | 2024-11-17 | criteria provided, single submitter | clinical testing | The p.E387A variant (also known as c.1160A>C), located in coding exon 10 of the CEP57 gene, results from an A to C substitution at nucleotide position 1160. The glutamic acid at codon 387 is replaced by alanine, an amino acid with dissimilar 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. |