ClinVar Miner

Submissions for variant NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup

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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 RCV001328250 SCV001449228 pathogenic Atypical hemolytic-uremic syndrome 2016-08-19 no assertion criteria provided clinical testing This patient is heterozygous for a duplication of exons 2 and 3 of the CFHR5 gene. This variant has been reported in the literature as the causative mutation of C3 glomerulonephritis in patients of Cypriot origin (Gale et al 2010 Lancet 376:794-801; Athanasiou et al 2011 Clin J Am Soc Nephrol 6:1436-1446). The duplication of exons 2 and 3 was shown to be within the CFHR5 gene and affected the affinity of complement binding in vitro. The physiological impact of this is uncertain (Gale et al 2010). This variant is considered to be likely pathogenic according to the ACMG guidelines.

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