ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1073C>T (p.Pro358Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043558 SCV001207309 uncertain significance Glucose-6-phosphate transport defect 2019-05-17 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 358 of the SLC37A4 protein (p.Pro358Leu). The proline residue is highly conserved and there is a small physicochemical difference between proline and leucine. This variant is present in population databases (rs782025581, ExAC 0.01%). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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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