Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001223441 | SCV001395591 | uncertain significance | Mosaic variegated aneuploidy syndrome 2 | 2019-03-31 | 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: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with CEP57-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 192 of the CEP57 protein (p.Leu192Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
| Ambry Genetics | RCV003294070 | SCV003992540 | uncertain significance | Inborn genetic diseases | 2023-06-06 | criteria provided, single submitter | clinical testing | The c.575T>C (p.L192P) alteration is located in exon 5 (coding exon 5) of the CEP57 gene. This alteration results from a T to C substitution at nucleotide position 575, causing the leucine (L) at amino acid position 192 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |