ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1179G>A (p.Trp393Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001192958 SCV001361447 pathogenic Glucose-6-phosphate transport defect 2019-10-11 criteria provided, single submitter clinical testing Variant summary: SLC37A4 c.1179G>A (p.Trp393X) 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. The variant allele was found at a frequency of 1.6e-05 in 249216 control chromosomes (gnomAD). c.1179G>A has been reported in the literature in multiple individuals affected with Glycogen Storage Disease Type Ib (Choi_2017, Hiraiwa_1999, Prasad_2017, Santer_2000). These data indicate that the variant is very likely to be associated with disease. A functional study, Chen_2000, found the variant caused little to no SLC37A4 [referred to as G6PT (legacy name)] synthesis to occur. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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