ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003507732 SCV004324376 pathogenic Glucose-6-phosphate transport defect 2023-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 32772503). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp227*) 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).

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