ClinVar Miner

Submissions for variant NM_052813.5(CARD9):c.636G>A (p.Gln212=)

gnomAD frequency: 0.00001  dbSNP: rs759411705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482373 SCV001686739 likely benign Predisposition to invasive fungal disease due to CARD9 deficiency 2023-10-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001482373 SCV003919764 uncertain significance Predisposition to invasive fungal disease due to CARD9 deficiency 2021-03-30 criteria provided, single submitter clinical testing CARD9 NM_052813.4 exon 5 p.Gln212= (c.636G>A): This variant has not been reported in the literature but is present in 0.005% (6/111300) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-139265145-C-T). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign.

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