ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1207G>C (p.Gly403Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences RCV004799694 SCV005420949 likely pathogenic Hereditary hemolytic uremic syndrome 2018-11-09 no assertion criteria provided research A combination of the splice site mutation (IVS9-3 T > C) and the missense mutation NM_000186.4 c.1207G>C (p.G403R) in CFH gene in heterozygote state is likely associated with the disease. Based on ACMG criteria, the variation c.1204C>T (p.H402Y) (one aa before the current variation) is classified as a benign variation (https://www.ncbi.nlm.nih.gov/clinvar/variation/294490/). However, the association of the splice site mutation (IVS9-3 T > C) has already been reported with p.H402Y in heterozygote state has already been reported.

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