Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000652324 | SCV000774193 | uncertain significance | Developmental and epileptic encephalopathy, 25 | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 123 of the SLC13A5 protein (p.Arg123Trp). This variant is present in population databases (rs754937425, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC13A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 541969). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 | RCV002315973 | SCV000849371 | uncertain significance | Inborn genetic diseases | 2017-04-18 | criteria provided, single submitter | clinical testing | The p.R123W variant (also known as c.367C>T), located in coding exon 3 of the SLC13A5 gene, results from a C to T substitution at nucleotide position 367. The arginine at codon 123 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
| Genome- |
RCV000652324 | SCV002055677 | uncertain significance | Developmental and epileptic encephalopathy, 25 | 2021-07-15 | criteria provided, single submitter | clinical testing |