ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.955-2A>C

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448657 SCV004176417 likely pathogenic Congenital myasthenic syndrome 5 2023-03-01 criteria provided, single submitter clinical testing The invariant splice acceptor c.955-2A>C variant in COLQ gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.955-2A>C variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003448657 SCV004214448 pathogenic Congenital myasthenic syndrome 5 2024-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999935 SCV005621846 pathogenic not provided 2024-02-27 criteria provided, single submitter clinical testing This variant is expected to maintain the transcript reading frame, however, it may still disrupt protein function. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant segregates with disease in at least one family.
Fulgent Genetics, Fulgent Genetics RCV003448657 SCV005664983 likely pathogenic Congenital myasthenic syndrome 5 2024-05-16 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.