ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.217C>T (p.Gln73Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174784 SCV001338118 pathogenic Glucose-6-phosphate transport defect 2020-01-27 criteria provided, single submitter clinical testing Variant summary: SLC37A4 c.217C>T (p.Gln73X) 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 235820 control chromosomes. c.217C>T has been reported in the literature in at-least one homozygous individual of Japanese ethnicity affected with Glycogen Storage Disease Type Ib (example, Kojima_2004) and has been subsequently cited by others (example, Chou_2014). 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. 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.
Invitae RCV001174784 SCV001578029 pathogenic Glucose-6-phosphate transport defect 2020-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln73*) 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 individual(s) SLC37A4-related conditions (PMID: 15059622). ClinVar contains an entry for this variant (Variation ID: 917662). Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). For these reasons, this variant has been classified as Pathogenic.

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