ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.178C>T (p.Arg60Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218991 SCV001390906 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-06-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 60 of the MAX protein (p.Arg60Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 22452945). This variant has been reported to have conflicting or insufficient data to determine the effect on MAX protein function (PMID: 26070438). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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