ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447686 SCV004175261 uncertain significance CFHR5 deficiency 2022-10-04 criteria provided, single submitter clinical testing The CFHR5 c.1321C>T variant is classified as VUS (PM2) The CFHR5 c.1321C>T variant is a single nucleotide change in exon 8/10 of the CFHR5 gene, which is predicted to change the amino acid arginine at position 441 in the protein to cysteine. The variant is rare in population databases (gnomAD allele frequency = 0.0013%; 2 het and 0 hom in 152104 sequenced alleles; highest frequency = 0.0029%, Non-Finnish European population) (PM2). The variant has been reported in dbSNP (rs769456068) and in the HGMD database as possibly disease causing (CM2020115). It has not been reported in ClinVar. literature: PMID:33213850 - Variant listed as a VUS and was identified in a Korean adult patient with aHUS.
Fulgent Genetics, Fulgent Genetics RCV005012961 SCV005635226 uncertain significance C3 glomerulonephritis 2023-12-22 criteria provided, single submitter clinical testing

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