ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1400C>T (p.Pro467Leu)

dbSNP: rs1583394247
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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 RCV000824438 SCV000965336 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2018-08-22 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 467 of the CARD11 protein (p.Pro467Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CARD11-related disease. 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.

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