ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala) (rs759153904)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801082 SCV000940840 uncertain significance Blau syndrome; Inflammatory bowel disease 1 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 511 of the NOD2 protein (p.Thr511Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs759153904, ExAC 0.006%). This variant has not been reported in the literature in individuals with NOD2-related disease. 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"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996264 SCV001150912 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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