ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1003del (p.Asp335fs)

gnomAD frequency: 0.00002  dbSNP: rs766265864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002563882 SCV001410000 uncertain significance Blau syndrome; Regional enteritis 2019-10-30 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NOD2 cause disease. This variant has not been reported in the literature in individuals with NOD2-related conditions. This variant is present in population databases (rs766265864, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Asp362Thrfs*15) in the NOD2 gene. It is expected to result in an absent or disrupted protein product.

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