ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.399+6C>T

dbSNP: rs1557236080
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839197 SCV002099141 uncertain significance Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1 2021-04-16 criteria provided, single submitter clinical testing The inherited hemizygous c.399+6C>T splice-region variant identified in intron 3 (of 9) the IKBKG gene has not been reported in affected individuals in the literature. The variant is absent from the gnomAD(v3) database suggesting it is not a common benign variant in populations represented inthat database. In silico tools provide conflicting predictions about potential effect(s) of this variant on normal mRNA splicing. Based on the available evidence, the inherited hemizygous c.399+6C>T splice-region variant identified in the IKBKG gene is reported as a variant of uncertain significance.

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