ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003005058 SCV003299613 uncertain significance not provided 2023-09-30 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. 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. ClinVar contains an entry for this variant (Variation ID: 2085426). This variant has not been reported in the literature in individuals affected with CFH-related conditions. This variant is present in population databases (rs781365948, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 599 of the CFH protein (p.Pro599Thr).
Revvity Omics, Revvity RCV003005058 SCV003831617 uncertain significance not provided 2021-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455652 SCV004180832 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456301 SCV004180833 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455654 SCV004180835 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455653 SCV004180836 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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