ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3185G>T (p.Arg1062Ile)

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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 RCV004585190 SCV005073941 uncertain significance Immunodeficiency 11b with atopic dermatitis criteria provided, single submitter clinical testing The missense variant c.3185G>T(p.Arg1062Ile) in the CARD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0003%) in the gnomAD Exomes. The amino acid Arginine at position 1062 is changed to an Isoleucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Arg1062Ile in CARD11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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