ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.211_221del (p.Ile71fs) (rs1060500101)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461175 SCV000541541 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2016-05-03 criteria provided, single submitter clinical testing This sequence change deletes 11 nucleotides from exon 4 of the MAX mRNA (c.211_221delATCCAGTATAT), causing a frameshift at codon 71. This creates a premature translational stop signal (p.Ile71Alafs*12) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MAX are known to be pathogenic (PMID: 21685915, 26070438). For these reasons, this variant has been classified as Pathogenic.

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