ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val)

dbSNP: rs1943524404
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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 RCV001212230 SCV001383807 uncertain significance Glucose-6-phosphate transport defect 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 352 of the SLC37A4 protein (p.Ile352Val). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 942276). 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. This variant is not present in population databases (gnomAD no frequency).

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