ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln)

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
Precision Medicine Center,Zhengzhou University RCV001391126 SCV001593080 likely pathogenic Focal segmental glomerulosclerosis 2 criteria provided, single submitter research PM2:not found in gnomAD PP1:Cosegregation with disease in multiple affected family members PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328109 SCV001449458 uncertain significance Nephrotic syndrome 2018-10-24 no assertion criteria provided clinical testing This patient is heterozygous for a variant of uncertain clinical significance (VOUS), c.644G>A (p.Arg215Gln), in the TRPC6 gene. To our knowledge, this variant has not been previously reported. p.Arg215 is a highly conserved amino acid (up to 15 species) however, there is only a small physicochemical difference between the wild type arginine and the mutant glutamine. In silico analysis (Alamut Visual v2.6) varies in regards to this variant; while PolyPhen2, SIFT and MutationTaster all predict this variant to be pathogenic, Align GVGD predicts that this variant is likely to be benign.

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.