ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)

dbSNP: rs781869215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668230 SCV000792799 likely pathogenic Glucose-6-phosphate transport defect 2017-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668230 SCV005729698 pathogenic Glucose-6-phosphate transport defect 2024-04-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe237Cysfs*4) 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). This variant is present in population databases (rs781869215, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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