ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) (rs1557045250)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640931 SCV000762535 uncertain significance Creatine transporter deficiency 2020-03-04 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 382 of the SLC6A8 protein (p.Pro382Leu). 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 in an individual affected with creatine transporter deficiency (PMID: 19188083). Experimental studies have shown that this missense change severely reduces creatine uptake in fibroblasts (PMID: 22281021). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000640931 SCV001428483 pathogenic Creatine transporter deficiency 2019-02-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255373 SCV001431703 pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1145C>T, p.(Pro382Leu) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was M.The variant likely explains the NDD in this individual.
National Institute of Neuroscience,National Center of Neurology and Psychiatry RCV000640931 SCV001438321 pathogenic Creatine transporter deficiency criteria provided, single submitter research
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies RCV000640931 SCV001156348 not provided Creatine transporter deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-03-2018 by GTR ID 500031. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect facilitates ClinVar submission from the Association for Creatine Deficiencies registry and does not attempt to reinterpret the variant.

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