Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851012 | SCV002235736 | pathogenic | not provided | 2021-08-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 375336). This premature translational stop signal has been observed in individual(s) with nephrotic syndrome (PMID: 24270420). This variant is present in population databases (rs764587648, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Phe215Leufs*14) in the COQ8B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COQ8B are known to be pathogenic (PMID: 24270420). |
Gene |
RCV000416403 | SCV000494111 | not provided | Nephrotic syndrome, type 9 | no assertion provided | literature only |