ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr)

gnomAD frequency: 0.00001  dbSNP: rs1306240431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003103921 SCV001231135 uncertain significance Blau syndrome; Regional enteritis 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 995 of the NOD2 protein (p.Ile995Thr). This variant is present in population databases (no rsID available, 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: 859920). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261271 SCV002542719 uncertain significance Autoinflammatory syndrome 2017-11-01 criteria provided, single submitter clinical testing

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