ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg)

gnomAD frequency: 0.00006  dbSNP: rs141839189
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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 RCV000651947 SCV000773804 likely benign Severe combined immunodeficiency due to IKK2 deficiency 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025844 SCV004886059 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.1390T>C (p.C464R) alteration is located in exon 14 (coding exon 13) of the IKBKB gene. This alteration results from a T to C substitution at nucleotide position 1390, causing the cysteine (C) at amino acid position 464 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692040 SCV005195908 uncertain significance not provided criteria provided, single submitter not provided

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