Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001247328 | SCV001420740 | uncertain significance | Mosaic variegated aneuploidy syndrome 2 | 2022-09-14 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 375 of the CEP57 protein (p.Ser375Arg). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 971528). |
| Ambry Genetics | RCV003166558 | SCV003883797 | uncertain significance | Inborn genetic diseases | 2023-03-01 | criteria provided, single submitter | clinical testing | The c.1123A>C (p.S375R) alteration is located in exon 9 (coding exon 9) of the CEP57 gene. This alteration results from a A to C substitution at nucleotide position 1123, causing the serine (S) at amino acid position 375 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |