ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.1199C>T (p.Thr400Ile)

dbSNP: rs2530742133
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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 RCV002510666 SCV002820169 uncertain significance Neurodevelopmental disorder with language impairment and behavioral abnormalities criteria provided, single submitter clinical testing The missense variant c.1199C>T(p.Thr400Ile) in GRIA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr400Ile variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Thr at position 400 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Thr400Ile in GRIA2 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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