ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter)

dbSNP: rs143916832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St George's Genomics Service, St George's University Hospitals NHS FT 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.

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