Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001362499 | SCV001558519 | uncertain significance | Mosaic variegated aneuploidy syndrome 2 | 2020-03-05 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 388 of the CEP57 protein (p.Ser388Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs778871999, ExAC 0.001%). This variant has not been reported in the literature in individuals with CEP57-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 C15"). 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 | RCV004980371 | SCV005561112 | uncertain significance | Inborn genetic diseases | 2024-11-25 | criteria provided, single submitter | clinical testing | The p.S388L variant (also known as c.1163C>T), located in coding exon 10 of the CEP57 gene, results from a C to T substitution at nucleotide position 1163. The serine at codon 388 is replaced by leucine, 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. |