ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.410G>A (p.Gly137Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691216 SCV000818965 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-05-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 137 of the MAX protein (p.Gly137Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs771696396, ExAC 0.006%). This variant has not been reported in the literature in individuals with MAX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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