Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001877324 | SCV002135452 | uncertain significance | Renal carnitine transport defect | 2024-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 516 of the SLC22A5 protein (p.Pro516Arg). This variant is present in population databases (rs563142575, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1370763). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC22A5 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. |
| Ambry Genetics | RCV004968400 | SCV005494601 | uncertain significance | Inborn genetic diseases | 2024-08-11 | criteria provided, single submitter | clinical testing | The c.1547C>G (p.P516R) alteration is located in exon 9 (coding exon 9) of the SLC22A5 gene. This alteration results from a C to G substitution at nucleotide position 1547, causing the proline (P) at amino acid position 516 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |