ClinVar Miner

Submissions for variant NM_000065.5(C6):c.1816C>T (p.Arg606Ter)

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 RCV003732005 SCV004535198 pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with complete C6 deficiency (PMID: 32670577). This variant is present in population databases (rs191386155, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg606*) in the C6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C6 are known to be pathogenic (PMID: 17257682).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796839 SCV005415670 pathogenic Complement component 6 deficiency criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3+PP1_Moderate

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.