ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.289C>T (p.Gln97Ter) (rs1167538050)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815462 SCV000955916 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-11-27 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with pheochromocytomas (PMID: 29909963). 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 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. 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.
Academic Department of Medical Genetics, University of Cambridge 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.

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