ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1106G>A (p.Arg369His) (rs11700812)

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
Invitae RCV000701963 SCV000830790 uncertain significance Classic homocystinuria 2019-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 369 of the CBS protein (p.Arg369His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs11700812, ExAC 0.01%). This variant has been observed in an individual affected with CBS deficiency (PMID: 7967489). Experimental studies have shown that this missense change does not perturb CBS enzymatic activity (PMID: 22267502). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.