ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.1258C>T (p.Arg420Cys) (rs367883043)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658285 SCV000780056 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The R420C variant in the NOD2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 2/33,580 alleles (0.006%) from individuals of Latino background, and 7/246,044 global alleles (0.003%) with no homozygous control individuals reported, in large population cohorts (Lek et al., 2016). The R420C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R420C as a variant of uncertain significance.

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