ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg)

gnomAD frequency: 0.00001  dbSNP: rs371339573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002528346 SCV000636097 uncertain significance Blau syndrome; Regional enteritis 2022-05-18 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects NOD2 function (PMID: 15044951). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 462698). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. This variant is present in population databases (rs371339573, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 680 of the NOD2 protein (p.Gly680Arg).
Mayo Clinic Laboratories, Mayo Clinic RCV002261099 SCV002541326 uncertain significance not provided 2021-12-28 criteria provided, single submitter clinical testing

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