Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433773 | SCV000516991 | likely pathogenic | not provided | 2017-02-06 | criteria provided, single submitter | clinical testing | The I394T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I394T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I394T 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Counsyl | RCV000675086 | SCV000800598 | uncertain significance | Pyruvate carboxylase deficiency | 2017-09-20 | criteria provided, single submitter | clinical testing |