Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000490046 | SCV000577580 | uncertain significance | not provided | 2018-04-16 | criteria provided, single submitter | clinical testing | The R53Q variant in the SLC2A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R53Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R53Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R53Q as a variant of uncertain significance. |
| Fulgent Genetics, |
RCV000764477 | SCV000895548 | uncertain significance | Type 2 diabetes mellitus; Fanconi-Bickel syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001147021 | SCV001307788 | uncertain significance | Fanconi-Bickel syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Labcorp Genetics |
RCV001147021 | SCV001400651 | likely benign | Fanconi-Bickel syndrome | 2025-02-03 | criteria provided, single submitter | clinical testing | |
| New York Genome Center | RCV002467840 | SCV002764440 | uncertain significance | Type 2 diabetes mellitus | 2021-10-26 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV000490046 | SCV004226939 | uncertain significance | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | BP4 |