ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3021T>G (p.Asp1007Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002724776 SCV003736424 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.3021T>G (p.D1007E) alteration is located in exon 23 (coding exon 22) of the CARD11 gene. This alteration results from a T to G substitution at nucleotide position 3021, causing the aspartic acid (D) at amino acid position 1007 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778596 SCV004596813 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-03-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs780981181, gnomAD 0.02%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2394813). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1007 of the CARD11 protein (p.Asp1007Glu).

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