ClinVar Miner

Submissions for variant NM_015681.5(B9D1):c.341+2T>C (rs143149764)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000024098 SCV000593572 likely pathogenic Meckel syndrome, type 9 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV000818541 SCV000959160 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the B9D1 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 (rs143149764, ExAC 0.006%). This variant has been observed in individual(s) with Meckel Gruber syndrome (PMID: 21493627). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.505+2T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 31102). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 21493627). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in B9D1 are known to be pathogenic (PMID: 21493627). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024098 SCV000045389 pathogenic Meckel syndrome, type 9 2011-07-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049798 SCV000082207 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely 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.