ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3226A>C (p.Ile1076Leu)

dbSNP: rs1779139292
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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 RCV001317242 SCV001507896 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2020-02-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with CARD11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with leucine at codon 1076 of the CARD11 protein (p.Ile1076Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine.

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