ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.128C>T (p.Thr43Met)

dbSNP: rs2115094112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762722 SCV001990092 likely pathogenic not provided 2024-07-22 criteria provided, single submitter clinical testing Identified as a heterozygous variant in patients with clinical features of a CARD11-related disorder referred for genetic testing at GeneDx and in published literature (PMID: 38231347); Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies suggest decreased protein function, although further experiments are needed to determine this conclusively (PMID: 33202260); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 37037469, 38231347, 33202260)
CeGaT Center for Human Genetics Tuebingen RCV001762722 SCV004042287 likely pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing CARD11: PM2, PM5, PP2, PS3:Supporting, PS4:Supporting
University of Washington Center for Mendelian Genomics, University of Washington RCV001543387 SCV001761945 likely pathogenic Immunodeficiency 11b with atopic dermatitis no assertion criteria provided research

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