ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.1819G>A (p.Val607Met)

gnomAD frequency: 0.00001  dbSNP: rs764627236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040825 SCV001204415 uncertain significance Severe combined immunodeficiency due to IKK2 deficiency 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 607 of the IKBKB protein (p.Val607Met). This variant is present in population databases (rs764627236, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IKBKB-related conditions. ClinVar contains an entry for this variant (Variation ID: 839133). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IKBKB protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002551480 SCV003703315 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.1819G>A (p.V607M) alteration is located in exon 18 (coding exon 17) of the IKBKB gene. This alteration results from a G to A substitution at nucleotide position 1819, causing the valine (V) at amino acid position 607 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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