Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002340888 | SCV002642420 | uncertain significance | Inborn genetic diseases | 2022-07-17 | criteria provided, single submitter | clinical testing | The p.L175V variant (also known as c.523C>G), located in coding exon 3 of the SLC37A4 gene, results from a C to G substitution at nucleotide position 523. The leucine at codon 175 is replaced by valine, 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. |
| Labcorp Genetics |
RCV003617978 | SCV004521247 | uncertain significance | Glucose-6-phosphate transport defect | 2023-04-07 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1746276). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 175 of the SLC37A4 protein (p.Leu175Val). 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. 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. |