ClinVar Miner

Submissions for variant NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) (rs121913059)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000022540 SCV000915378 pathogenic Age-related macular degeneration 4 2018-08-09 criteria provided, single submitter clinical testing Across a selection of the available literature, the CFH c.3628C>T (p.Arg1210Cys) missense variant has been identified in a heterozygous state in at least 70 patients with macular degeneration (Raychaundhuri et al. 2011; Zhan et al. 2013; Seddon et al. 2014; Duvvari et al. 2015). The p.Arg1210Cys variant was reported in a heterozygous state in two out of over 4,480 controls and is reported at a frequency of 0.00031 in the European (non-Finnish) population of the Genome Aggregation Database. Functional analysis of the p.Arg1210Cys variant using serum from a heterozygous individual as well as recombinant factor H protein suggests this variant reduces the binding of factor H to various ligands including heparin, endothelial cells, and Cb3 (Manuelian et al. 2003). Based on the collective evidence, the p.Arg1210Cys variant is classified as pathogenic for macular degeneration. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000018025 SCV000038304 pathogenic Factor H deficiency 2015-07-01 no assertion criteria provided literature only
OMIM RCV000018026 SCV000038305 risk factor Atypical hemolytic-uremic syndrome 1 2015-07-01 no assertion criteria provided literature only
OMIM RCV000022540 SCV000043829 risk factor Age-related macular degeneration 4 2015-07-01 no assertion criteria provided literature only

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