ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.329A>C (p.Gln110Pro) (rs775808138)

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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 RCV000563755 SCV000673600 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000229325 SCV000287375 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 110 of the MAX protein (p.Gln110Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs775808138, ExAC 0.003%). This variant has not been reported in the literature in individuals with MAX-related disease. ClinVar contains an entry for this variant (Variation ID: 239149). 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, 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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