ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.689+1G>A (rs398124226)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081409 SCV000113340 pathogenic not provided 2012-09-05 criteria provided, single submitter clinical testing
Invitae RCV000689848 SCV000817517 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2017-10-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the SEC23B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs398124226, ExAC 0.006%). This variant has been reported in the compound heterozygous state in individuals affected with congenital dyserythropoietic anemia type II (PMID: 19561605, 19621418). ClinVar contains an entry for this variant (Variation ID: 95389). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). 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.