ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1125-15C>G

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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 RCV002871568 SCV003232191 uncertain significance Glucose-6-phosphate transport defect 2022-10-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the SLC37A4 gene. It does not directly change the encoded amino acid sequence of the SLC37A4 protein.

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