Total submissions: 1
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. |