ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.433G>T (p.Gly145Ter)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004785825 SCV005400881 likely pathogenic Microcephalic osteodysplastic dysplasia, Saul-Wilson type criteria provided, single submitter clinical testing The observed stop gained c.433G>T(p.Gly145Ter) variant in COG4 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.433G>T variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidence (MutationTaster - Disease causing) predicts damaging effect on protein structure and function for this variant. The nucleotide change c.433G>T in COG4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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.