ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3344G>A (p.Cys1115Tyr)

gnomAD frequency: 0.00001  dbSNP: rs777154448
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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 RCV001238119 SCV001410916 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-08-26 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CARD11-related conditions. This variant is present in population databases (rs777154448, ExAC 0.003%). This sequence change replaces cysteine with tyrosine at codon 1115 of the CARD11 protein (p.Cys1115Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine.

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