ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.31G>C (p.Gly11Arg)

gnomAD frequency: 0.00001  dbSNP: rs755854165
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247749 SCV001421190 uncertain significance Mosaic variegated aneuploidy syndrome 2 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 11 of the CEP57 protein (p.Gly11Arg). This variant is present in population databases (rs755854165, gnomAD 0.03%). 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: 971868). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004978210 SCV005561111 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The p.G11R variant (also known as c.31G>C), located in coding exon 1 of the CEP57 gene, results from a G to C substitution at nucleotide position 31. The glycine at codon 11 is replaced by arginine, 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.