ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) (rs121908975)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007331 SCV000945225 pathogenic Glucose-6-phosphate transport defect 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu355*) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with glycogen storage disease type Ib (PMID: 11949931), and has been shown on the opposite chromosome (in trans) from a pathogenic variant in an affected individual (PMID: 9428641). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 6922). Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000007331 SCV001482185 pathogenic Glucose-6-phosphate transport defect 2021-02-21 criteria provided, single submitter clinical testing Variant summary: SLC37A4 c.1063G>T (p.Glu355X) 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 247192 control chromosomes. c.1063G>T has been reported in the literature in individuals affected with Glycogen Storage Disease Type Ib (example, Gerin_1997, Chou_2002). These data indicate that the variant is likely to be associated with disease. 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 citing overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000007331 SCV000027529 pathogenic Glucose-6-phosphate transport defect 1997-12-15 no assertion criteria provided literature only

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