Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243012 | SCV001416140 | uncertain significance | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2019-11-07 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with SYN1-related conditions. This sequence change replaces proline with leucine at codon 524 of the SYN1 protein (p.Pro524Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. |