Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001348806 | SCV001543123 | uncertain significance | Glucose-6-phosphate transport defect | 2022-06-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 5 of the SLC37A4 protein (p.Gly5Arg). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1044548). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Fulgent Genetics, |
RCV002486432 | SCV002792319 | uncertain significance | Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw | 2022-01-20 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003405582 | SCV004114050 | uncertain significance | SLC37A4-related condition | 2023-01-17 | criteria provided, single submitter | clinical testing | The SLC37A4 c.13G>C variant is predicted to result in the amino acid substitution p.Gly5Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-118900067-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |