ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) (rs367962613)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198168 SCV000249715 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CBS gene. The E451D variant has not been published as pathogenic or been reported as benign to our knowledge. The E451D variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Nevertheless, the E451D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Fulgent Genetics,Fulgent Genetics RCV000764259 SCV000895267 uncertain significance Homocystinuria due to CBS deficiency 2018-10-31 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.