ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.1584G>A (p.Met528Ile)

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 RCV003337881 SCV004048274 uncertain significance Focal segmental glomerulosclerosis 2 criteria provided, single submitter clinical testing The missense variant c.1584G>A (p.Met528Ile) in TRPC6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Met528Ile variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Met at position 528 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Met528Ile in TRPC6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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.