Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002927557 | SCV003261156 | uncertain significance | TWIST1-related craniosynostosis; Saethre-Chotzen syndrome | 2022-04-18 | criteria provided, single submitter | clinical testing | This variant, c.241_264dup, results in the insertion of 8 amino acid(s) of the TWIST1 protein (p.Cys81_Gly88dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TWIST1-related conditions. 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. |