ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2802-2A>G

gnomAD frequency: 0.00002  dbSNP: rs564226539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002553449 SCV002151051 uncertain significance Blau syndrome; Regional enteritis 2021-04-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with NOD2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 9 of the NOD2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NOD2 cause disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261403 SCV002542715 uncertain significance Autoinflammatory syndrome 2021-03-05 criteria provided, single submitter clinical testing

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