ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1145C>G (p.Ala382Gly)

dbSNP: rs776851896
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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 RCV001921145 SCV002197323 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 382 of the CARD11 protein (p.Ala382Gly). This variant is present in population databases (rs776851896, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1416037). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
PreventionGenetics, part of Exact Sciences RCV003395283 SCV004119808 uncertain significance CARD11-related disorder 2023-09-29 criteria provided, single submitter clinical testing The CARD11 c.1145C>G variant is predicted to result in the amino acid substitution p.Ala382Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-2976867-G-C). 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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