ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.136C>G (p.Leu46Val)

dbSNP: rs149740754
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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 RCV001983161 SCV002237942 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-07-21 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 46 of the CARD11 protein (p.Leu46Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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