ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)

gnomAD frequency: 0.00001  dbSNP: rs137854907
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
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058868 SCV000090388 likely pathogenic Bardet-Biedl syndrome 2023-06-02 criteria provided, single submitter research
Invitae RCV003764740 SCV004569658 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2023-09-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 91 of the ARL6 protein (p.Ile91Thr). This variant is present in population databases (rs137854907, gnomAD 0.01%). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 24400638, 29806606). ClinVar contains an entry for this variant (Variation ID: 68064). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.