ClinVar Miner

Submissions for variant NM_000491.5(C1QB):c.223G>A (p.Gly75Arg) (rs35477594)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768160 SCV000898552 uncertain significance C1q deficiency 2018-11-30 criteria provided, single submitter clinical testing C1QB NM_000491.4 exon 3 p.Gly75Arg (c.223G>A): This variant has been reported in the literature in at least 1 individual with very early onset inflammatory bowel disease (VEO-IBD) (Kelsen 2015 PMID:26193622). This variant is present in 0.8% (111/127298) of European alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-22987340-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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