ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del)

dbSNP: rs761197192
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524965 SCV000651272 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-02-11 criteria provided, single submitter clinical testing In summary, this is a rare in-frame deletion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant is present in population databases (rs761197192, ExAC 0.03%) but has not been reported in the literature in individuals with a CEP57-related disease. This sequence change deletes 9 nucleotides from exon 11 of the CEP57 mRNA (c.1297_1305delCAGAAGAAG). This leads to the deletion of 3 amino acid residues in the CEP57 protein (p.Gln433_Lys435del) but otherwise preserves the integrity of the reading frame.

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.