Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639335 | SCV000760907 | pathogenic | Hereditary pheochromocytoma-paraganglioma | 2017-10-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MAX are known to be pathogenic (PMID: 21685915, 26070438). This variant has not been reported in the literature in individuals with MAX-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr73*) in the MAX gene. It is expected to result in an absent or disrupted protein product. |