Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521150 | SCV000619566 | uncertain significance | not provided | 2017-07-27 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the DNM1 gene. The I464V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I464V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I464V 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 that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001051028 | SCV001215161 | likely benign | Developmental and epileptic encephalopathy, 31 | 2023-08-17 | criteria provided, single submitter | clinical testing |