Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036471 | SCV001199837 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2023-11-08 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the JUP mRNA. The next in-frame methionine is located at codon 4. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 835563). 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. |