ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.385T>C (p.Tyr129His) (rs370952911)

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
GeneDx RCV000727418 SCV000568071 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing The Y129H variant in the ANO5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y129H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y129H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (G126V, I133F, H134Y, H134R) have been reported in the Human Gene Mutation Database in association with ANO5-related disorders (Stenson et al., 2014), suggesting this region of the protein has functional importance. We interpret Y129H as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727418 SCV000708342 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing

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.