ClinVar Miner

Submissions for variant NM_182972.3(IRF2BP2):c.653G>C (p.Gly218Ala)

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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 RCV004785865 SCV005400949 uncertain significance Immunodeficiency, common variable, 14 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.653G>C(p.Gly218Ala) variant in IRF2BP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly218Ala variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Computational evidence (Polyphen -probably damaging , SIFT -Tolerated and MutationTaster -polymorphism) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid in IRF2BP2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 218 is changed to a Ala 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).

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