ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1757G>A (p.Arg586Gln)

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
GeneDx RCV004702097 SCV005201790 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Reported as a de novo variant identified through research genetic analysis in at least one patient with a clinical diagnosis of CdLS or possible CdLS; detailed clinical information was not provided (PMID: 25125236); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31425923, 25125236, 32193685)

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.