ClinVar Miner

Submissions for variant NM_000572.3(IL10):c.43G>A (p.Gly15Arg) (rs145922845)

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Total submissions: 2
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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 RCV000767995 SCV000898750 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing IL10 NM_000572.2 exon 1 p.Gly15Arg (c.43G>A): This variant has been reported in the literature in at least 2 individuals with inflammatory bowel disease (IBD), segregating with disease in 1 affected family member (van der Linde 2003 PMID:12825869, Christodolou 2013 PMID:22543157). However, this variant is present in 0.3% (430/126546) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-206945738-C-T). This variant is present in ClinVar (Variation ID:456662). This variant amino acid Arginine (Arg) is present in 3 mammals (Dolphin, Killer Whale, Megabat); this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. Of note, computational tools designed to predict splicing suggest a potential effect from this variant. However, further studies are needed to understand its impact. In addition, in vitro functional studies also suggest that this variant will impact the protein (van der Linde 2003 PMID:12825869). However, these studies may not accurately represent in vivo biological function. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000540440 SCV000627060 benign Inflammatory bowel disease 2017-10-27 criteria provided, single submitter clinical testing

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