Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382606 | SCV001581447 | pathogenic | not provided | 2022-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1356*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1070463). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is not present in population databases (gnomAD no frequency). |