ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.41A>G (p.Glu14Gly) (rs876660888)

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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 RCV000213097 SCV000278673 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000475591 SCV000541543 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2016-12-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 14 of the MAX protein (p.Glu14Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. 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: 234154). 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: "Deleterious"; PolyPhen-2: "Benign"; 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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