Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001234380 | SCV001407023 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2023-08-31 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 960788). This variant has not been reported in the literature in individuals affected with MAX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 110 of the MAX protein (p.Gln110Glu). |
| Ambry Genetics | RCV002322122 | SCV002606030 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-05-27 | criteria provided, single submitter | clinical testing | The p.Q110E variant (also known as c.328C>G), located in coding exon 5 of the MAX gene, results from a C to G substitution at nucleotide position 328. The glutamine at codon 110 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |