ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1343G>A (p.Cys448Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Laboratory - Department of Internal Medicine and Hematology, Semmelweis University RCV005215813 SCV005689547 likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2025-02-11 criteria provided, single submitter clinical testing Described in one aHUS patient. Absent from controls. PMID: 26826462. Variation p.C448Y affects a conserved cysteine residue and disrupts one of the disulfide bonds characteristic for scr8 that probably affects proper folding of the protein and consequently may result in impaired secretion of the molecule similarly to a previously reported mutation of a conserved cysteine residue (Caprioli et al., 2001, Schmidt et al., 1999).

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