ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)

dbSNP: rs1652987369
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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 RCV001328248 SCV001449226 pathogenic Atypical hemolytic-uremic syndrome 2019-01-22 no assertion criteria provided clinical testing This individual is heterozygous for the c.3398C>G variant in the CFH gene. This variant creates a premature stop codon p.(Ser1133*) and may result in a null allele due to nonsense-mediated mRNA decay. This variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP). This variant has been reported in the database of complement gene variants in a patient with aHUS (http://www.complement-db.org/home.php) and other truncating variants downstream of this amino acid have been described . This variant is considered to be pathogenic according to the ACMG guidelines. (Evidence used: PVS1, PM2, PP5)

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