Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593826 | SCV000700826 | uncertain significance | not provided | 2015-04-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000705165 | SCV000834150 | uncertain significance | Glucose-6-phosphate transport defect | 2024-01-30 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 164 of the SLC37A4 protein (p.Ser164Arg). This variant is present in population databases (rs369399624, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 496949). 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 with a negative predictive value of 80%. 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 | RCV002350420 | SCV002646421 | uncertain significance | Inborn genetic diseases | 2024-05-30 | criteria provided, single submitter | clinical testing | The p.S164R variant (also known as c.492C>A), located in coding exon 3 of the SLC37A4 gene, results from a C to A substitution at nucleotide position 492. The serine at codon 164 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV000593826 | SCV003923732 | uncertain significance | not provided | 2022-11-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27001614) |
Mayo Clinic Laboratories, |
RCV000593826 | SCV005408168 | uncertain significance | not provided | 2024-04-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000705165 | SCV001457669 | uncertain significance | Glucose-6-phosphate transport defect | 2020-09-16 | no assertion criteria provided | clinical testing |