ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) (rs397515559)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000055919 SCV000762536 pathogenic Creatine transporter deficiency 2017-09-13 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 554 of the SLC6A8 protein (p.Pro554Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with X-linked mental retardation due to SLC6A8-deficiency in a single family (PMID: 15154114). It has also been reported in unrelated individuals affected with creatine transporter deficiency (PMID: 23660394, 21836662, 25803912). ClinVar contains an entry for this variant (Variation ID: 65693). Experimental studies have shown that this missense change disrupts normal creatine uptake in patient's fibroblasts and in vitro (PMID: 17465020). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics,Klinikum rechts der Isar RCV000055919 SCV001150258 pathogenic Creatine transporter deficiency 2019-06-07 criteria provided, single submitter clinical testing
GeneReviews RCV000055919 SCV000086930 pathologic Creatine transporter deficiency 2011-08-18 no assertion criteria provided curation Converted during submission to Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.