ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1905A>T (p.Glu635Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003562321 SCV004293867 uncertain significance not provided 2024-02-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 635 of the CFH protein (p.Glu635Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 17599974). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005013028 SCV005630462 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-02-05 criteria provided, single submitter clinical testing

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