Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238954 | SCV001411791 | uncertain significance | Hereditary spastic paraplegia 4 | 2019-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with serine at codon 28 of the SPAST protein (p.Cys28Ser). The cysteine residue is weakly conserved and there is a moderate physicochemical difference between cysteine and serine. 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 SPAST-related conditions. This variant is not present in population databases (ExAC no frequency). |