ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3472dup (p.Ser1158fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577087 SCV005060894 likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 criteria provided, single submitter clinical testing The observed frameshift c.3472dup(p.Ser1158PhefsTer21) variant in CFH gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Ser1158PhefsTer21 variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Serine 1158, changes this amino acid to Phenylalanine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Ser1158PhefsTer21. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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