ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)

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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 RCV003338071 SCV004046967 uncertain significance Glucose-6-phosphate transport defect criteria provided, single submitter clinical testing The missense variant c.812T>A (p.Val271Asp) in SLC37A4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val271Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Val at position 271 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Val271Asp 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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