ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.985+270C>T (rs782800127)

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
GeneDx RCV000439301 SCV000536342 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing The H349Y variant in the SLC37A4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H349Y variant was not observed in approximately 2,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The H349Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret H349Y as a variant of uncertain significance.
Counsyl RCV000664889 SCV000788916 likely benign Glucose-6-phosphate transport defect 2017-01-03 criteria provided, single submitter clinical testing

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.