Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000129940 | SCV000184759 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-03-10 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense) |
| Invitae | RCV000524813 | SCV000637870 | pathogenic | Hereditary Paraganglioma-Pheochromocytoma Syndromes | 2018-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg75*) in the MAX gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with bilateral adrenal pheochromoytoma in a single family (PMID: 21685915), and has been reported in additional unrelated individuals with adrenal pheochromocytoma (PMID: 22452945, 23551045). ClinVar contains an entry for this variant (Variation ID: 29786). Loss-of-function variants in MAX are known to be pathogenic (PMID: 21685915, 26070438). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000022653 | SCV000043942 | risk factor | Pheochromocytoma, susceptibility to | 2011-06-19 | no assertion criteria provided | literature only |