ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del)

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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 RCV003340837 SCV004047602 uncertain significance C1Q deficiency criteria provided, single submitter clinical testing The inframe deletion c.647_649del (p.Glu216del) in C1QC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu216del variant is novel (not in any individuals) in gnomAD exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This p.Glu216del causes deletion of amino acid Glutamic Acid at position 216. The observed variant is not in repeat region. Since the variant is an inframe deletion,it has been classified as Uncertain Significance (VUS).

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