Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691216 | SCV000818965 | uncertain significance | Hereditary Paraganglioma-Pheochromocytoma Syndromes | 2019-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 137 of the MAX protein (p.Gly137Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs771696396, ExAC 0.006%). This variant has not been reported in the literature in individuals with MAX-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV001021889 | SCV001183558 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-07 | criteria provided, single submitter | clinical testing | Insufficient evidence |