ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3532A>T (p.Asn1178Tyr)

dbSNP: rs1653040605
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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 RCV001328127 SCV001449219 uncertain significance Atypical hemolytic-uremic syndrome 2018-04-17 no assertion criteria provided clinical testing This patient is homozygous for a variant of unknown clinical significance (VOUS), c.3532A>T, p.(Asn1178Tyr), in exon 22 of the CFH gene. To our knowledge, this variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP), and also has not been previously reported in the literature or any disease specific databases. p.Asn1178 is a highly conserved amino acid considering 7 species. In silico analysis (through Alamut Visual v2.8.1) is inconclusive regarding this variant, PolyPhen2 and SIFT predicts it to be likely pathogenic whereas MutationTaster predicts this variant to be likely benign. This variant is considered to be a variant of unknown clinical significance (VOUS) according to the ACMG guidelines

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