ClinVar Miner

Submissions for variant NC_000014.9:g.(?_65101546)_(65102544_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473813 SCV000563786 pathogenic Hereditary pheochromocytoma-paraganglioma 2016-05-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the MAX gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the MAX gene. It is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss of function variants including gross deletions in MAX are known to be pathogenic (PMID: 21685915, 22452945, 26070438). For these reasons, this variant has been classified as Pathogenic.

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