ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs980878522
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928638 SCV002194165 uncertain significance not provided 2021-04-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLC1A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 36 of the SLC1A2 protein (p.Arg36His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine.
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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.