ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.386+1G>T

dbSNP: rs1559122277
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000785901 SCV000924477 likely pathogenic Bardet-Biedl syndrome 5 2018-06-15 criteria provided, single submitter research The homozygous c.386+1G>T variant was identified by our study in one individual with Bardet-Biedl syndrome. This variant was absent from large population studies. The c.386+1G>T variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the BBS5 gene is an established disease mechanism in autosomal recessive Bardet-Biedl syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its clinical significance, this variant is 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.