ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val)

dbSNP: rs2134887083
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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 RCV001823569 SCV002073102 uncertain significance Developmental and epileptic encephalopathy, 41 criteria provided, single submitter clinical testing The missense variant p.I102V in SLC1A2 (NM_004171.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.I102V variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.I102V missense variant is predicted to be damaging by both SIFT and PolyPhen2. The isoleucine residue at codon 102 of SLC1A2 is conserved in all mammalian species. The nucleotide c.304 in SLC1A2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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