ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2449G>A (p.Ala817Thr)

gnomAD frequency: 0.00005  dbSNP: rs376539147
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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 RCV000704820 SCV000833789 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-11-18 criteria provided, single submitter clinical testing
New York Genome Center RCV001784345 SCV002025618 uncertain significance Immunodeficiency 11b with atopic dermatitis 2020-04-26 criteria provided, single submitter clinical testing The inherited p.Ala817Thr variant identified in CARD11 has not been reported inaffected individuals in the literature. This variant has been reported in ClinVar (variation ID: 581096) and has 0.00005307 allele frequency in the gnomAD database (15 out of 282,620 heterozygous alleles). The p.Ala817Thr variant affects a moderately conserved residue and In Silico prediction tools provide conflicting interpretations about its potential pathogenicity. Based on the current evidence, the p.Ala817Thr variant in the CARD11 gene is assessed as a variant of uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV004569383 SCV005051429 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing CARD11: PM2, BP4

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