ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1807+3A>G

gnomAD frequency: 0.00015  dbSNP: rs41368548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651142 SCV000772992 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-09-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 540969). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is present in population databases (rs41368548, gnomAD 0.08%). This sequence change falls in intron 14 of the CARD11 gene. It does not directly change the encoded amino acid sequence of the CARD11 protein. It affects a nucleotide within the consensus splice site.
GenomeConnect - Invitae Patient Insights Network RCV001535758 SCV001749897 not provided BENTA disease; Immunodeficiency 11b with atopic dermatitis no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-30-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
PreventionGenetics, part of Exact Sciences RCV003965392 SCV004778954 likely benign CARD11-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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