Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489327 | SCV000576738 | uncertain significance | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | The A3096T variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A3096T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A3096T variant is a non-conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A3096T as a variant of uncertain significance. |
Natera, |
RCV001829396 | SCV002086197 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-12-17 | no assertion criteria provided | clinical testing |