ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1922T>C (p.Val641Ala)

gnomAD frequency: 0.00006  dbSNP: rs371768180
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001915438 SCV002173000 uncertain significance not provided 2023-06-17 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change does not substantially affect CFH function (PMID: 34189567). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1399205). This missense change has been observed in individual(s) with clinical features of CFH-related conditions (PMID: 29888403, 34508573). This variant is present in population databases (rs371768180, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 641 of the CFH protein (p.Val641Ala).
Fulgent Genetics, Fulgent Genetics RCV002478300 SCV002782326 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-08-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452102 SCV004180851 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452105 SCV004180852 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452104 SCV004180853 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452103 SCV004180854 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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