Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000222659 | SCV000276131 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-17 | criteria provided, single submitter | clinical testing | Insufficient or Conflicting Evidence |
Invitae | RCV000530997 | SCV000637879 | uncertain significance | Hereditary Paraganglioma-Pheochromocytoma Syndromes | 2019-09-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 156 of the MAX protein (p.Arg156Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MAX-related disease. ClinVar contains an entry for this variant (Variation ID: 232084). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |