ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2113G>A (p.Gly705Ser)

gnomAD frequency: 0.00001  dbSNP: rs146070546
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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 RCV000797538 SCV000937099 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-11-15 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. 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: 643759). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 705 of the CARD11 protein (p.Gly705Ser).

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