ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)

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
Ambry Genetics RCV003197843 SCV003887233 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.1013T>C (p.F338S) alteration is located in exon 9 (coding exon 7) of the SLC37A4 gene. This alteration results from a T to C substitution at nucleotide position 1013, causing the phenylalanine (F) at amino acid position 338 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003618061 SCV004401946 uncertain significance Glucose-6-phosphate transport defect 2023-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 338 of the SLC37A4 protein (p.Phe338Ser). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC37A4 protein function. ClinVar contains an entry for this variant (Variation ID: 2473587). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions.

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.