ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly)

dbSNP: rs546577012
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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 RCV001318309 SCV001509006 uncertain significance Glucose-6-phosphate transport defect 2020-05-03 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 functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SLC37A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 10 of the SLC37A4 protein (p.Arg10Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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