Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001981524 | SCV002222542 | pathogenic | Atrial septal defect 7 | 2021-04-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe86Cysfs*23) in the NKX2-5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 239 amino acid(s) of the NKX2-5 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NKX2-5-related conditions. This variant disrupts the C-terminus of the NKX2-5 protein. Other variant(s) that disrupt this region (p.Tyr237*) have been determined to be pathogenic (PMID: Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |