ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.*1148+236G>A

gnomAD frequency: 0.36123  dbSNP: rs3087243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515646 SCV001723766 benign Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707853 SCV005240317 benign not provided criteria provided, single submitter not provided
OMIM RCV000018429 SCV000038711 risk factor Hashimoto thyroiditis, susceptibility to 2011-10-17 no assertion criteria provided literature only
OMIM RCV000018430 SCV000038712 risk factor Celiac disease, susceptibility to, 3 2004-09-01 no assertion criteria provided literature only
Institute for Medical Immunology, Charité - Universitätsmedizin Berlin RCV001254798 SCV001167678 protective chronic fatigue syndrome with infection-triggered onset 2020-02-10 no assertion criteria provided case-control G allele is associated with chronic fatigue syndrome with infection-triggered onset (OR 1.53 [CI 1.17-2.03], p = 0,001)

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