Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
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, |
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. |