ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1521G>T (p.Leu507=)

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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 RCV003797793 SCV004579479 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-02-19 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. This sequence change affects codon 507 of the CARD11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CARD11 protein. 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 variant has not been reported in the literature in individuals affected with CARD11-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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