ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.13G>A (p.Gly5Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246069 SCV001419402 uncertain significance Glucose-6-phosphate transport defect 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 5 of the SLC37A4 protein (p.Gly5Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs571267951, ExAC 0.07%). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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