Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000673099 | SCV000798267 | likely pathogenic | Glucose-6-phosphate transport defect | 2018-03-02 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000673099 | SCV000832873 | pathogenic | Glucose-6-phosphate transport defect | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr25Serfs*49) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 557015). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Victorian Clinical Genetics Services, |
RCV000673099 | SCV002557726 | pathogenic | Glucose-6-phosphate transport defect | 2022-02-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with glycogen storage disease type Ib (GSD Ib) (MIM#232220). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2 & v3) <0.01 for a recessive condition (3 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. Multiple different variants also predicted to result in a loss of function have previously been reported in individuals with GSD Ib (MIM#232220) (ClinVar, DECIPHER). (SP) 0803 - This variant has limited previous evidence of pathogenicity in an unrelated individual. The variant is present in ClinVar with a likely pathogenic/pathogenic classification. (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1205 - This variant has been shown to be maternally inherited (external testing by Invitae). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
| Fulgent Genetics, |
RCV002499185 | SCV002811805 | likely pathogenic | Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw | 2022-04-28 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000673099 | SCV004202456 | likely pathogenic | Glucose-6-phosphate transport defect | 2023-06-27 | criteria provided, single submitter | clinical testing |