ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)

dbSNP: rs2134640168
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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 RCV001378593 SCV001576195 likely pathogenic Glucose-6-phosphate transport defect 2020-03-18 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect SLC37A4 protein function (PMID: 30951856). This variant has been observed in individual(s) with glycogen storage disease (PMID: 28685844). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 83 of the SLC37A4 protein (p.Gly83Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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