ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229325 SCV000287375 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-11-14 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.
Ambry Genetics RCV000563755 SCV000673600 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-23 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV001111568 SCV001269136 likely benign Pheochromocytoma 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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