ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)

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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 RCV003337759 SCV004048020 uncertain significance Developmental and epileptic encephalopathy, 41 criteria provided, single submitter clinical testing The missense variant c.1003A>G (p.Ile335Val) in SLC1A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ile335Val variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ile at position 335 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ile335Val in SLC1A2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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