ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.3139G>A (p.Ala1047Thr) (rs146334064)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000120453 SCV000084605 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000804742 SCV000944665 uncertain significance Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1047 of the CARD11 protein (p.Ala1047Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs146334064, ExAC 0.03%). This variant has not been reported in the literature in individuals with CARD11-related disease. ClinVar contains an entry for this variant (Variation ID: 133802). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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