Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001373045 | SCV001569744 | uncertain significance | Orofacial-digital syndrome IV; Joubert syndrome 18 | 2022-10-05 | criteria provided, single submitter | clinical testing | This sequence change affects codon 353 of the TCTN3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TCTN3 protein. This variant is present in population databases (rs750698768, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TCTN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063225). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |