ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2200A>T (p.Ile734Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005011674 SCV005632384 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2023-12-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005061855 SCV005726926 uncertain significance not specified 2024-11-08 criteria provided, single submitter clinical testing Variant summary: CFH c.2200A>T (p.Ile734Phe) results in a non-conservative amino acid change located in the Complement Module, domain 1 (InterPro) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251172 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2200A>T in individuals affected with CFH-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.

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