ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1049G>T (p.Gly350Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547245 SCV005042648 uncertain significance Glucose-6-phosphate transport defect criteria provided, single submitter clinical testing The missense c.1049G>T p.Gly350Val variant in the SLC37A4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. The amino acid Glycine at position 350 is changed to a Valine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Gly350Val in SLC37A4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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