ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1143+8C>T

gnomAD frequency: 0.00001  dbSNP: rs1361841452
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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 RCV001985785 SCV002261221 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-01-10 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1479784). This variant has been observed in individual(s) with clinical features of CARD11-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change falls in intron 8 of the CARD11 gene. It does not directly change the encoded amino acid sequence of the CARD11 protein.

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