ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1411G>A (p.Glu471Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003153161 SCV003842003 uncertain significance Blau syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Different missense changes at the same codon (p.Glu471Asp, p.Glu471Gly) have been reported to be associated with NOD2 related disorder (PMID: 24876985, 34251956). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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