ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp)

dbSNP: rs781962569
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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 RCV002018626 SCV002301579 uncertain significance Glucose-6-phosphate transport defect 2022-08-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. 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 functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1514363). This variant is present in population databases (rs781962569, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 376 of the SLC37A4 protein (p.Gly376Asp).

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