Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211319 | SCV001382852 | pathogenic | not provided | 2024-01-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His1269Profs*56) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 941525). For these reasons, this variant has been classified as Pathogenic. |