Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815462 | SCV000955916 | likely pathogenic | Hereditary pheochromocytoma-paraganglioma | 2018-11-20 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts a region of the protein in which other variant (p.Leu102Pro) have been observed in individuals with MAX-related conditions (PMID: 22452945). This suggests that this may be a clinically significant region of the MAX protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed in an individual affected with pheochromocytomas (PMID: 29909963). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MAX gene (p.Gln97*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 64 amino acids of the MAX protein. |
Academic Department of Medical Genetics, |
RCV000850060 | SCV000992216 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity. |