Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002876712 | SCV003240675 | uncertain significance | Peutz-Jeghers syndrome | 2022-09-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp348Thrfs*45) in the STK11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acid(s) of the STK11 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STK11-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. |
Myriad Genetics, |
RCV002876712 | SCV004933681 | pathogenic | Peutz-Jeghers syndrome | 2024-02-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |