ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.107G>A (p.Arg36His)

gnomAD frequency: 0.00001  dbSNP: rs980878522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928638 SCV002194165 benign not provided 2024-11-14 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004546686 SCV005042611 uncertain significance Developmental and epileptic encephalopathy, 41 criteria provided, single submitter clinical testing The missense c.107G>A p.Arg36His variant in the SLC1A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. . This variant is reported with the allele frequency 0.003% in the gnomAD Exomes and novel in 1000 Genomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Arginine at position 36 is changed to a Histidine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg36His in SLC1A2 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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