ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1707C>G (p.Tyr569Ter)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003340788 SCV004047509 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L criteria provided, single submitter clinical testing The stop gained variant c.1707C>G (p.Tyr569Ter) in ANO5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Tyr569Ter variant has allele frequency 0.0003% in gnomAD exomes and novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. The nucleotide change c.1707C>G in ANO5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of second reportable variant/CNV, the molecular diagnosis is not confirmed.

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.