Submissions for variant NM_002382.5(MAX):c.410G>A (p.Gly137Asp) (rs771696396)

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Total submissions: 2

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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	2019-10-03	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.
Ambry Genetics	RCV001021889	SCV001183558	uncertain significance	Hereditary cancer-predisposing syndrome	2018-06-07	criteria provided, single submitter	clinical testing	Insufficient evidence

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