ClinVar Miner

Submissions for variant NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)

gnomAD frequency: 0.00001  dbSNP: rs587777546
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000128641 SCV004223600 pathogenic Bardet-Biedl syndrome 19 2023-11-09 criteria provided, single submitter clinical testing Variant summary: IFT27 c.296G>A (p.Cys99Tyr) results in a non-conservative amino acid change located in the Small GTP-binding protein domain (IPR005225) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251490 control chromosomes. c.296G>A has been reported in the literature as a biallelic homozygous genotype in at-least two individuals from one consanguineous family affected with Bardet-Biedl Syndrome 19 (example, Aldamesh_2014 cited by Shaheen_2016, Zhou_2022, Schaefer_2019). It has also been observed as a homozygous occurrence in an internal case affected with features of Bardet-Biedl Syndrome. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 24488770, 30761183, 27894351, 34888642). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000128641 SCV000172276 pathogenic Bardet-Biedl syndrome 19 2014-06-15 no assertion criteria provided literature only

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.