Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549221 | SCV000640031 | uncertain significance | Creatine transporter deficiency | 2017-09-05 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SLC6A8-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 600 of the SLC6A8 protein (p.Gly600Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. |