Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000481128 | SCV000573027 | uncertain significance | not provided | 2017-02-13 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the ALG13 gene. The A81T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A81T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A81T 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 and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in Human Gene Mutation Database in association with ALG13-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| OMIM | RCV001262121 | SCV001439883 | pathogenic | Developmental and epileptic encephalopathy, 36 | 2022-04-01 | no assertion criteria provided | literature only | |
| Yale Center for Mendelian Genomics, |
RCV001849382 | SCV002106984 | likely pathogenic | Seizure; Microcephaly; Neurodevelopmental delay | 2021-03-18 | no assertion criteria provided | literature only |