Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001247810 | SCV001421255 | likely pathogenic | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with focal segmental glomerulosclerosis in a family (PMID: 23291369). This variant has been reported to affect TRPC6 protein function (PMID: 23291369, 26892346). This variant disrupts the p.Arg175 amino acid residue in TRPC6. Other variant(s) that disrupt this residue have been observed in individuals with TRPC6-related conditions (PMID: 28204945, 30295827), which suggests that this may be a clinically significant amino acid residue. This sequence change replaces arginine with glutamine at codon 175 of the TRPC6 protein (p.Arg175Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV001029759 | SCV002810508 | likely pathogenic | Focal segmental glomerulosclerosis 2 | 2022-05-25 | criteria provided, single submitter | clinical testing | |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029759 | SCV001192537 | pathogenic | Focal segmental glomerulosclerosis 2 | 2019-04-04 | no assertion criteria provided | clinical testing |