Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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]. |