ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.560T>C (p.Ile187Thr) (rs1452797070)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673556 SCV000798771 uncertain significance Glucose-6-phosphate transport defect 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV000673556 SCV001567674 uncertain significance Glucose-6-phosphate transport defect 2020-03-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 187 of the SLC37A4 protein (p.Ile187Thr). The isoleucine residue is moderately 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 SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 557414). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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.