ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.694C>T (p.Arg232Ter)

dbSNP: rs755790570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic 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).
GeneDx 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-Nilou Lab RCV003451763 SCV004180742 likely pathogenic Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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