ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.773C>T (p.Pro258Leu)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294661 SCV002587435 uncertain significance Focal segmental glomerulosclerosis 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097858 SCV003524010 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 258 of the CFH protein (p.Pro258Leu). 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 affects CFH function (PMID: 34189567). 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. ClinVar contains an entry for this variant (Variation ID: 1712406). This missense change has been observed in individual(s) with CFH-related conditions (PMID: 17089378, 35925583). This variant is present in population databases (rs768526062, gnomAD 0.0009%).
Genome-Nilou Lab RCV003454086 SCV004180752 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454089 SCV004180753 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454088 SCV004180754 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454087 SCV004180755 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002820 SCV005629239 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-06-19 criteria provided, single submitter clinical testing

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