ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3098C>T (p.Ala1033Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003070555 SCV003476984 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-07-04 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is present in population databases (rs770667388, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1033 of the CARD11 protein (p.Ala1033Val).

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