Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519875 | SCV000619806 | uncertain significance | not provided | 2017-08-14 | criteria provided, single submitter | clinical testing | The A234V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A234V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A234V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Alanine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Natera, |
RCV001829508 | SCV002084827 | uncertain significance | Methylmalonic aciduria, cblA type | 2020-09-16 | no assertion criteria provided | clinical testing |