ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.781C>T (p.Pro261Ser)

dbSNP: rs1562492241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768166 SCV000898566 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 2021-03-30 criteria provided, single submitter clinical testing CARD11 NM_032415.5 exon6 p.Pro261Ser (c.781C>T): This variant has not been reported in the literature, and it is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533937 SCV003201037 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-05-21 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 626073). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 261 of the CARD11 protein (p.Pro261Ser). 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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