ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.223C>T (p.Arg75Ter) (rs387906650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129940 SCV000184759 pathogenic Hereditary cancer-predisposing syndrome 2018-12-24 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000524813 SCV000637870 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-09-19 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

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