ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)

gnomAD frequency: 0.00004  dbSNP: rs775728252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002563246 SCV001407327 uncertain significance Blau syndrome; Regional enteritis 2022-09-06 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 NOD2 protein function. ClinVar contains an entry for this variant (Variation ID: 961037). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. 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 sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 468 of the NOD2 protein (p.Arg468His).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264239 SCV002543031 likely benign Autoinflammatory syndrome 2021-05-31 criteria provided, single submitter clinical testing

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