ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1341+3G>T

dbSNP: rs939644628
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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 RCV001895936 SCV002155406 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-07-25 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. 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 may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1384357). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 9 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.

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