ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.2205+2T>C

dbSNP: rs2130736002
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002238602 SCV002511635 likely pathogenic Severe combined immunodeficiency disease 2022-04-25 criteria provided, single submitter clinical testing Variant summary: IKBKB c.2205+2T>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 249342 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2205+2T>C in individuals affected with Severe Combined Immunodeficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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