ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val)

gnomAD frequency: 0.00001  dbSNP: rs776802746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262164 SCV002543030 uncertain significance Autoinflammatory syndrome 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV003095952 SCV003452608 uncertain significance Blau syndrome; Regional enteritis 2022-04-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 466 of the NOD2 protein (p.Ala466Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NOD2-related conditions. 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 NOD2 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.

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