ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.388T>A (p.Phe130Ile)

dbSNP: rs1554276147
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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 RCV000540112 SCV000653603 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-07-17 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. Experimental studies have shown that this missense change does not substantially affect CARD11 function (PMID: 33202260). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CARD11 protein function. ClinVar contains an entry for this variant (Variation ID: 473936). 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 phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 130 of the CARD11 protein (p.Phe130Ile).
CeGaT Center for Human Genetics Tuebingen RCV003456414 SCV004185421 likely pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing CARD11: PM1, PM2, PP2, PS3:Supporting

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