ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys)

dbSNP: rs760757972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342715 SCV001536660 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2022-09-19 criteria provided, single submitter clinical testing 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. 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 expected to disrupt NLRC4 protein function. ClinVar contains an entry for this variant (Variation ID: 1039274). This variant has not been reported in the literature in individuals affected with NLRC4-related conditions. This variant is present in population databases (rs760757972, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 542 of the NLRC4 protein (p.Glu542Lys).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264272 SCV002542379 uncertain significance Autoinflammatory syndrome 2017-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346497 SCV004074382 uncertain significance Inborn genetic diseases 2023-07-25 criteria provided, single submitter clinical testing The c.1624G>A (p.E542K) alteration is located in exon 4 (coding exon 3) of the NLRC4 gene. This alteration results from a G to A substitution at nucleotide position 1624, causing the glutamic acid (E) at amino acid position 542 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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