Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507511 | SCV001713106 | likely pathogenic | not provided | 2020-07-08 | criteria provided, single submitter | clinical testing | PVS1, PS4_moderate, PM2 |
Invitae | RCV001507511 | SCV003523365 | pathogenic | not provided | 2022-08-06 | 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: 1162886). This premature translational stop signal has been observed in individual(s) with clinical features of CFH-related conditions (PMID: 22456601, 30905644). This variant is present in population databases (rs755790570, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg232*) in the CFH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFH are known to be pathogenic (PMID: 11170896, 14978182, 16621965, 23870792, 25188723). |
Gene |
RCV001507511 | SCV003842584 | pathogenic | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24672732, 30905644, 22456601, 25899302, 24799308) |
Genome- |
RCV003451763 | SCV004180742 | likely pathogenic | Factor H deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing |