ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.607C>A (p.Pro203Thr) (rs534894133)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538033 SCV000631384 uncertain significance Glucose-6-phosphate transport defect 2019-03-03 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 203 of the SLC37A4 protein (p.Pro203Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs534894133, ExAC 0.1%). This variant has not been reported in the literature in individuals with a SLC37A4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on SLC37A4 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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