Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386736 | SCV001587084 | pathogenic | not provided | 2021-12-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073667). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs770218767, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys634*) in the TUBGCP6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TUBGCP6 are known to be pathogenic (PMID: 25344692). |