ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.377T>G (p.Leu126Arg)

gnomAD frequency: 0.00005  dbSNP: rs867184583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002543794 SCV001510903 uncertain significance Blau syndrome; Regional enteritis 2023-01-19 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) 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: 1020537). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 153 of the NOD2 protein (p.Leu153Arg).
Mayo Clinic Laboratories, Mayo Clinic RCV004793422 SCV005411319 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing

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