Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St George's Genomics Service, |
RCV001027537 | SCV001161777 | pathogenic | Creatine transporter deficiency | 2018-08-20 | criteria provided, single submitter | clinical testing | This variant was identified via whole exome and subsequently whole genome analysis of a family trio. In this family the variant has been shown to occur de novo and was not reported in any reviewed variant databases at the time of identification; however other pathogenic nonsense variants 3' to this variant have been reported. The consequence is predicted to be a truncated protein (stop gain) with loss of the 3' portion of the Sodium:neurotransmitter symporter, creatine (IPR002984) domain. Complete loss of a protein product or residual functionality of a truncated protein product has not been confirmed by further investigations. Variants in this X-linked gene have previously been associated with cerebral creatine deficiency syndrome (type 1) and matched phenotypically. |