ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.228del (p.Asn78fs) (rs1555340550)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639341 SCV000760913 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-05-29 criteria provided, single submitter clinical testing This sequence change creates a frameshift that disrupts the translational stop signal of the MAX mRNA (p.Asn78Thrfs*92). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acids including the native stop codon, and extend the length of the MAX protein by 9 amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with pheochromocytoma in a single family (Invitae). Experimental studies demonstrate that the C-terminal domain of the MAX protein is essential for protein localization to the nucleus and suppression of MYC transactivation activity (PMID: 1459463, 1730412, 7630640). This suggests that this domain is critical for MAX protein function and that loss of this region may be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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