ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile)

gnomAD frequency: 0.00004  dbSNP: rs765613848
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463690 SCV000548838 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000498549 SCV000590300 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002365636 SCV002658925 likely benign Inborn genetic diseases 2019-11-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.