ClinVar Miner

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

gnomAD frequency: 0.00186  dbSNP: rs145922845
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001257069 SCV000627060 benign Inflammatory bowel disease 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000767995 SCV001745976 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing IL10: BP4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224318 SCV003920055 uncertain significance Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to 2021-03-30 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000767995 SCV004224774 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing BS4, BP4, PS3_supporting
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000767995 SCV001797564 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000767995 SCV001932498 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000767995 SCV001970733 likely benign not provided no assertion criteria provided clinical testing

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