ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.-8-2223del

gnomAD frequency: 0.00001  dbSNP: rs1213629611
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002553173 SCV001211926 uncertain significance Blau syndrome; Regional enteritis 2023-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala8Profs*183) 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 not present in population databases (gnomAD no frequency). 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: 844966). 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.

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