Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000227155 | SCV000287377 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2024-12-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 133 of the MAX protein (p.Ala133Thr). This variant is present in population databases (rs750459929, gnomAD 0.004%). 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: 239151). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) 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. |
| Ambry Genetics | RCV000567888 | SCV000673601 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-28 | criteria provided, single submitter | clinical testing | The p.A133T variant (also known as c.397G>A), located in coding exon 5 of the MAX gene, results from a G to A substitution at nucleotide position 397. The alanine at codon 133 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| St. |
RCV000761172 | SCV000891088 | uncertain significance | Retinoblastoma | 2017-04-03 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001111565 | SCV001269133 | likely benign | Pheochromocytoma | 2017-06-05 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| Baylor Genetics | RCV001111565 | SCV004191930 | uncertain significance | Pheochromocytoma | 2023-10-25 | criteria provided, single submitter | clinical testing |