ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile)

gnomAD frequency: 0.00001  dbSNP: rs745846903
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262097 SCV002542402 uncertain significance Autoinflammatory syndrome 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV003095942 SCV003271269 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2022-10-12 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 not expected to disrupt NLRC4 protein function. ClinVar contains an entry for this variant (Variation ID: 1694375). This variant has not been reported in the literature in individuals affected with NLRC4-related conditions. This variant is present in population databases (rs745846903, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 906 of the NLRC4 protein (p.Val906Ile).
Ambry Genetics RCV004047427 SCV004989664 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.2716G>A (p.V906I) alteration is located in exon 8 (coding exon 7) of the NLRC4 gene. This alteration results from a G to A substitution at nucleotide position 2716, causing the valine (V) at amino acid position 906 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.