ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)

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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 RCV003087309 SCV003487660 uncertain significance Glucose-6-phosphate transport defect 2020-11-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 30 of the SLC37A4 protein (p.Thr30Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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