Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227587 | SCV001399949 | uncertain significance | not provided | 2023-05-15 | 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. ClinVar contains an entry for this variant (Variation ID: 955025). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs754135791, gnomAD 0.09%). This variant, c.4522_4524del, results in the deletion of 1 amino acid(s) of the TUBGCP6 protein (p.Phe1508del), but otherwise preserves the integrity of the reading frame. |