ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.213G>A (p.Trp71Ter)

dbSNP: rs1210674261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001938585 SCV002189153 pathogenic not provided 2024-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp71*) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CFH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1417726). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002484526 SCV002775742 likely pathogenic Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529049 SCV004111995 likely pathogenic CFH-related disorder 2023-03-28 criteria provided, single submitter clinical testing The CFH c.213G>A variant is predicted to result in premature protein termination (p.Trp71*). This variant has been reported in an individual with atypical hemolytic uremic syndrome (Table 3, Sheerin et al. 2016 PubMed ID: 25899302). This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-196642262-G-A). Nonsense variants in CFH are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Genome-Nilou Lab RCV003452163 SCV004180679 likely pathogenic Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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