Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528204 | SCV000631967 | pathogenic | Glutamate formiminotransferase deficiency | 2017-01-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss of function variants in FTCD are known to be pathogenic (PMID: 12815595). This sequence change creates a premature translational stop signal at codon 126 (p.Tyr126*) of the FTCD gene. It is expected to result in an absent or disrupted protein product. |