Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390723 | SCV001592525 | pathogenic | Glucose-6-phosphate transport defect | 2020-10-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp165*) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. |