Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001956323 | SCV002238290 | pathogenic | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2021-08-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg69Serfs*46) in the BMP4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 340 amino acid(s) of the BMP4 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. This variant disrupts a region of the BMP4 protein in which other variant(s) (p.Arg198*) have been determined to be pathogenic (PMID: 21340693). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |