Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000492926 | SCV000583222 | uncertain significance | not provided | 2017-05-25 | criteria provided, single submitter | clinical testing | The P1350L variant in the DYNC1H1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1350L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P1350L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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. We interpret P1350L as a variant of uncertain significance. |
Invitae | RCV000649565 | SCV000771394 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2022-09-19 | criteria provided, single submitter | clinical testing |