Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001390446 | SCV001592185 | pathogenic | Glucose-6-phosphate transport defect | 2023-05-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala309Leufs*3) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076502). This variant is also known as 1094delG. This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 9781688). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001390446 | SCV002051341 | pathogenic | Glucose-6-phosphate transport defect | 2021-12-23 | criteria provided, single submitter | clinical testing | Variant summary: SLC37A4 c.925delG (p.Ala309LeufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 239730 control chromosomes. c.925delG has been reported in the literature in individuals affected with Glycogen Storage Disease Type Ib (Marcolongo_1998). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV001390446 | SCV004202473 | pathogenic | Glucose-6-phosphate transport defect | 2023-03-09 | criteria provided, single submitter | clinical testing |