ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3530A>T (p.Tyr1177Phe)

dbSNP: rs1653040477
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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 RCV001328129 SCV001449221 uncertain significance Atypical hemolytic-uremic syndrome 2018-05-30 no assertion criteria provided clinical testing This patient is heterozygous for a variant of unknown clinical significance (VOUS), c.3530A>T (p.Tyr1177Phe), in the CFH gene. To our knowledge, this variant has not been reported in the literature or in any population databases (i.e. ExAC browser, ESP or dbSNP). In silico analysis (Alamut Visual v2.8.1) is inconclusive regarding this variant, SIFT and MutationTaster predicts it to be likely benign whereas PolyPhen2 predicts it to be possibly pathogenic. Heterozygous variants in CFH have been reported to confer susceptibility or a predisposition to atypical haemolytic uremic syndrome (aHUS) (OMIM134370). The inheritance is typically autosomal dominant and can show incomplete penetrance (Genereviews PMID: 20301541).

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