Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665965 | SCV000790186 | uncertain significance | Glucose-6-phosphate transport defect | 2017-03-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000665965 | SCV003446671 | uncertain significance | Glucose-6-phosphate transport defect | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 24 of the SLC37A4 protein (p.Tyr24Cys). This variant is present in population databases (rs569831771, gnomAD 0.09%). 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: 551015). 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. |