ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1434del (p.Ser479fs)

dbSNP: rs754761524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002547164 SCV000818891 uncertain significance Blau syndrome; Regional enteritis 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser506Profs*11) in the NOD2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NOD2 cause disease. This variant is present in population databases (rs767278572, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with NOD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 570310). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261177 SCV002542659 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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