ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) (rs121909740)

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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 RCV000147534 SCV000194979 pathogenic GLUT1 deficiency syndrome 1 2013-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000189361 SCV000242999 pathogenic not provided 2018-05-07 criteria provided, single submitter clinical testing The Ala275Thr missense mutation in the SLC2A1 gene has been reported to segregate with paroxysmal exertion-induced (PED) dyskinesia in a family with juvenile onset PED (Weber et al.,2008). Some relatives with the mutation also had minor permanent dystonia, postural tremor and chorea, and migraine without aura (Weber et al.,2008). Ala275Thr was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. TheAla275Thr amino acid substitution is non-conservative, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species.
OMIM RCV000017494 SCV000037766 pathogenic GLUT1 deficiency syndrome 2 2008-06-01 no assertion criteria provided literature only

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