ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr)

gnomAD frequency: 0.00004  dbSNP: rs1282634444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002534725 SCV000942675 uncertain significance Blau syndrome; Regional enteritis 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1000 of the NOD2 protein (p.Ala1000Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 648165). 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 with a negative predictive value of 95%. 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 RCV002261217 SCV002542720 uncertain significance Autoinflammatory syndrome 2018-06-01 criteria provided, single submitter clinical testing

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