ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser)

gnomAD frequency: 0.00001  dbSNP: rs746692864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002538067 SCV000950325 uncertain significance Blau syndrome; Regional enteritis 2023-08-19 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NOD2 protein function. ClinVar contains an entry for this variant (Variation ID: 654220). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. This variant is present in population databases (rs746692864, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 812 of the NOD2 protein (p.Pro812Ser).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238233 SCV002011386 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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