Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231817 | SCV001404349 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2022-02-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 60 of the MAX protein (p.Arg60Gln). 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: 958620). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects MAX function (PMID: 27903915). 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. |
Molecular Medicine, |
RCV003222266 | SCV002584947 | pathogenic | MAX-associated Macrocephaly and Polydactyly syndrome | 2022-10-18 | no assertion criteria provided | clinical testing | |
OMIM | RCV003595722 | SCV004363649 | pathogenic | Polydactyly-macrocephaly syndrome | 2024-02-08 | no assertion criteria provided | literature only |