Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000566082 | SCV000673612 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-20 | criteria provided, single submitter | clinical testing | The p.S45G variant (also known as c.133A>G), located in coding exon 3 of the MAX gene, results from an A to G substitution at nucleotide position 133. The serine at codon 45 is replaced by glycine, an amino acid with 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. |
| Invitae | RCV000823837 | SCV000964708 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 45 of the MAX protein (p.Ser45Gly). This variant is present in population databases (rs780865640, gnomAD 0.01%). 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: 485707). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt MAX function with a negative predictive value of 95%. 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. |