ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1226G>A (p.Trp409Ter)

dbSNP: rs376916741
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002240537 SCV001231839 pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2019-12-29 criteria provided, single submitter clinical testing Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with homocystinuria (PMID: 9266356). This variant is present in population databases (rs376916741, ExAC 0.03%). This sequence change creates a premature translational stop signal (p.Trp409*) in the CBS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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.