Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000169480 | SCV000220926 | likely pathogenic | Glucose-6-phosphate transport defect | 2014-12-01 | criteria provided, single submitter | literature only | |
| Illumina Laboratory Services, |
RCV000779044 | SCV000915502 | uncertain significance | Glycogen storage disease, type I | 2018-10-31 | criteria provided, single submitter | clinical testing | The SLC37A4 c.287G>A (p.Trp96Ter) variant is a stop-gained variant, which was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Trp96Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for glycogen storage disease type I. |
| Labcorp Genetics |
RCV000169480 | SCV002232083 | pathogenic | Glucose-6-phosphate transport defect | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp96*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 9758626). ClinVar contains an entry for this variant (Variation ID: 6928). 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. |
| Baylor Genetics | RCV000169480 | SCV004202485 | pathogenic | Glucose-6-phosphate transport defect | 2023-01-17 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000007339 | SCV000027537 | pathogenic | Phosphate transport defect | 1998-10-01 | no assertion criteria provided | literature only |