Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001068407 | SCV001233519 | uncertain significance | Glucose-6-phosphate transport defect | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 182 of the SLC37A4 protein (p.Leu182Phe). This variant is present in population databases (rs775311483, gnomAD 0.01%). 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: 861812). 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, |
RCV002497473 | SCV002814996 | uncertain significance | Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001068407 | SCV002079594 | uncertain significance | Glucose-6-phosphate transport defect | 2020-12-14 | no assertion criteria provided | clinical testing |