Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002912770 | SCV003246604 | uncertain significance | Mosaic variegated aneuploidy syndrome 2 | 2022-09-14 | criteria provided, single submitter | clinical testing | 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. 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: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 15 of the CEP57 protein (p.Ser15Leu). |
| Ambry Genetics | RCV004966146 | SCV005561080 | uncertain significance | Inborn genetic diseases | 2024-11-20 | criteria provided, single submitter | clinical testing | The p.S15L variant (also known as c.44C>T), located in coding exon 1 of the CEP57 gene, results from a C to T substitution at nucleotide position 44. The serine at codon 15 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. |