ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.293del (p.Met98fs)

dbSNP: rs1643481831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001255171 SCV001431523 pathogenic Childhood onset GLUT1 deficiency syndrome 2 2020-08-27 criteria provided, single submitter clinical testing This SLC2A1 variant is absent in a large population dataset and has not been reported in ClinVar nor the literature to our knowledge. This frameshift variant results in a premature stop codon, likely leading to nonsense-mediated decay and lack of protein production. We consider c.293delT to be pathogenic.

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