Submissions for variant NM_002382.5(MAX):c.467G>A (p.Arg156Gln) (rs876659544)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000222659	SCV000276131	uncertain significance	Hereditary cancer-predisposing syndrome	2019-09-17	criteria provided, single submitter	clinical testing	Insufficient or Conflicting Evidence
Invitae	RCV000530997	SCV000637879	uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes	2019-09-29	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 156 of the MAX protein (p.Arg156Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MAX-related disease. ClinVar contains an entry for this variant (Variation ID: 232084). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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