ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3545G>A (p.Arg1182Lys)

dbSNP: rs749403509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328125 SCV001449217 uncertain significance Atypical hemolytic-uremic syndrome 2018-10-24 no assertion criteria provided clinical testing This patient is heterozygous for a variant of unknown clinical significance (VOUS), c.3545G>A p.(Arg1182Lys), in exon 22 of the CFH gene. To our knowledge, this variant has not been previously reported in the literature and no frequency data is available. In silico analysis (Alamut Visual v2.6) using PolyPhen2, SIFT, Align GVGD and Mutation Taster all predict this variant to be benign.

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