ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)

dbSNP: rs587784390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147518 SCV000194955 likely pathogenic Encephalopathy due to GLUT1 deficiency 2013-06-06 criteria provided, single submitter clinical testing
3billion RCV000147518 SCV002012345 pathogenic Encephalopathy due to GLUT1 deficiency 2021-10-02 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with supporting evidence (ClinVar ID: VCV000159921.1, PS1). It is not observed in the gnomAD v2.1.1 dataset (PM2). A different missense change at the same codon (p.Asn34Ser) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000662199.8, PMID: 23340081 and 28961260, PM5). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Missense changes are a common disease-causing mechanism (PP2).In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.743, 3Cnet: 0.848, PP3). Therefore, this variant is classified pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV000147518 SCV004173959 likely pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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