Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691602 | SCV000819388 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2018-06-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MAX-related disease. 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. This sequence change results in a frameshift in the MAX gene (p.Glu148Glyfs*118). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 13 amino acids of the MAX protein and extend the protein by an additional 105 amino acids. |