ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) (rs797045971)

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
Genetic Services Laboratory, University of Chicago RCV000192415 SCV000248922 likely benign not specified 2014-06-08 criteria provided, single submitter clinical testing
Invitae RCV000709775 SCV000956226 uncertain significance Creatine deficiency, X-linked 2018-08-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 534 of the SLC6A8 protein (p.Ile534Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC6A8-related disease. ClinVar contains an entry for this variant (Variation ID: 212211). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GenomeConnect, ClinGen RCV000709775 SCV000840096 not provided Creatine deficiency, X-linked no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.