ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.88C>T (p.Arg30Trp) (rs145474800)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528697 SCV000653605 uncertain significance Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 2018-03-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 30 of the CARD11 protein (p.Arg30Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This heterozygous variant has been reported to segregate with combined immunodeficiency (CID) in a family (PMID: 28826773). ClinVar contains an entry for this variant (Variation ID: 473938). Experimental studies have shown that this missense change has dominant negative properties and can compromise NF-kB signaling resulting in decreased T-cell response (PMID: 28826773). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV000788795 SCV000928043 pathogenic not provided 2018-11-07 criteria provided, single submitter clinical testing

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