Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522928 | SCV000620552 | uncertain significance | not provided | 2017-09-12 | criteria provided, single submitter | clinical testing | The A710T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A710T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A710T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species, and missense variants in nearby residues (V711L, G715R) have been reported in the Human Gene Mutation Database in association with ATP1A2-related disorders (Stenson et al., 2014). Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |