ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)

gnomAD frequency: 0.00001  dbSNP: rs1366929531
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001933031 SCV002197185 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1415337). This missense change has been observed in individual(s) with age-related macular degeneration (PMID: 34508573). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1044 of the CFH protein (p.Arg1044Gly).
Fulgent Genetics, Fulgent Genetics RCV002491882 SCV002780406 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452148 SCV004177397 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452151 SCV004177398 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452150 SCV004177399 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452149 SCV004177400 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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