Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000567538 | SCV000673615 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-20 | criteria provided, single submitter | clinical testing | The p.L111R variant (also known as c.332T>G), located in coding exon 5 of the MAX gene, results from a T to G substitution at nucleotide position 332. The leucine at codon 111 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001369582 | SCV001566024 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2024-02-01 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 111 of the MAX protein (p.Leu111Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MAX-related conditions. ClinVar contains an entry for this variant (Variation ID: 485710). 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. 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. |
| Baylor Genetics | RCV004569275 | SCV005060757 | uncertain significance | Pheochromocytoma | 2023-11-06 | criteria provided, single submitter | clinical testing |