ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.637A>G (p.Ser213Gly)

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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 RCV004764828 SCV005374778 uncertain significance Inflammatory bowel disease 28 criteria provided, single submitter clinical testing The missense variant c.637A>G(p.Ser213Gly) in IL10RA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - benign, SIFT - damaging and MutationTaster - polymorphism) predicts conflicting evidence on protein structure and function for this variant. The amino acid Ser at position 213 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS). The above variant has also been detected in heterozygous state in spouse [TANVIRABANU VARIS ALI; ID: 30502200457].

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