ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2071T>C (p.Cys691Arg)

dbSNP: rs1669151290
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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 RCV001328124 SCV001449216 uncertain significance Atypical hemolytic-uremic syndrome 2017-10-26 no assertion criteria provided clinical testing This individual is heterozygous for the c.2071T>C p.(Cys691Arg) variant in the CFH gene. The variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. In silico analysis of pathogenicity (through Alamut Visual v2.8.1) using PolyPhen2, SIFT, MutationTaster and Align GVGD suggest that this variant is likely to be pathogenic. However, this analysis alone cannot be used to confirm pathogenicity. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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