ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)

gnomAD frequency: 0.00032  dbSNP: rs142902005
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001935755 SCV002187981 uncertain significance not provided 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 724 of the CFH protein (p.Thr724Lys). This variant is present in population databases (rs142902005, gnomAD 0.09%). 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: 1416545). 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 disruptive. 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.
Revvity Omics, Revvity RCV001935755 SCV003831616 uncertain significance not provided 2020-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452154 SCV004177281 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452157 SCV004177283 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452156 SCV004177284 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452155 SCV004177285 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001935755 SCV004224712 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing BP4

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