Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688989 | SCV000816622 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2018-03-09 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with glycine at codon 5 of the PRX protein (p.Ser5Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs767350599, ExAC 0.008%). This variant has not been reported in the literature in individuals with PRX-related disease. 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. |