ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003068567 SCV003454774 uncertain significance Glucose-6-phosphate transport defect 2020-12-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 193 of the SLC37A4 protein (p.Asp193Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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. 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.
Ambry Genetics RCV004070447 SCV005017808 uncertain significance Inborn genetic diseases 2023-11-21 criteria provided, single submitter clinical testing The p.D193N variant (also known as c.577G>A), located in coding exon 3 of the SLC37A4 gene, results from a G to A substitution at nucleotide position 577. The aspartic acid at codon 193 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.