ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp) (rs749720540)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996265 SCV001150913 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Invitae RCV001244704 SCV001417946 uncertain significance Blau syndrome; Inflammatory bowel disease 1 2019-06-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 753 of the NOD2 protein (p.Arg753Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs749720540, ExAC 0.02%). This variant has not been reported in the literature in individuals with NOD2-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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