ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3418G>A (p.Gly1140Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002928238 SCV003266816 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003395539 SCV004120635 uncertain significance CARD11-related disorder 2023-09-12 criteria provided, single submitter clinical testing The CARD11 c.3418G>A variant is predicted to result in the amino acid substitution p.Gly1140Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-2946319-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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