ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)

gnomAD frequency: 0.00001  dbSNP: rs782172072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807219 SCV000947262 pathogenic Glucose-6-phosphate transport defect 2018-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). This variant has not been reported in the literature in individuals with SLC37A4-related disease. This variant is present in population databases (rs782172072, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Val313Serfs*13) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product.
Centogene AG - the Rare Disease Company RCV000807219 SCV001424492 pathogenic Glucose-6-phosphate transport defect criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000807219 SCV004222672 pathogenic Glucose-6-phosphate transport defect 2023-11-15 criteria provided, single submitter clinical testing Variant summary: SLC37A4 c.936dupA (p.Val313SerfsX13) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 8.3e-06 in 241170 control chromosomes. c.936dupA has been reported in the literature in individuals affected with Glycogen Storage Disease Type Ib (example, Veiga_1998, Halligan_1998). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 33977030, 9758626). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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