ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.361del (p.Gln121fs)

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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 RCV004585192 SCV005073944 uncertain significance C3 glomerulonephritis criteria provided, single submitter clinical testing The frame shift c.361del(p.Gln121LysfsTer10) variant in CFHR5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant has allele frequency of 0.005% in gnomAD exomes database. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Glutamine 121, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Gln121LysfsTer10. As loss of function variants are not reported in this gene, and pLI score is low, for these reasons, this variant is classified as Uncertain Significance (VUS).

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