ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.679C>T (p.Arg227Ter)

gnomAD frequency: 0.00001  dbSNP: rs770045897
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000375853 SCV000329989 pathogenic not provided 2022-01-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 23553736, 22088788, 28464723, 25557462, 18180250)
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626064 SCV000746686 pathogenic Congenital myasthenic syndrome 5 2017-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000375853 SCV001246037 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000626064 SCV003525314 pathogenic Congenital myasthenic syndrome 5 2022-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280125). This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 18180250, 22088788, 23553736, 25557462). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs770045897, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg227*) in the COLQ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COLQ are known to be pathogenic (PMID: 22678886).
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV003321579 SCV004027606 pathogenic Synaptic congenital myasthenic syndromes 2023-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000626064 SCV004214444 pathogenic Congenital myasthenic syndrome 5 2024-03-20 criteria provided, single submitter clinical testing

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.