ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly)

dbSNP: rs771490210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002563837 SCV001408458 uncertain significance Blau syndrome; Regional enteritis 2023-06-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs771490210, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 961982). 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. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1009 of the NOD2 protein (p.Arg1009Gly).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261314 SCV002542722 uncertain significance Autoinflammatory syndrome 2018-02-02 criteria provided, single submitter clinical testing

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