ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.339del (p.Lys114fs)

dbSNP: rs1643480923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253108 SCV001428640 likely pathogenic Encephalopathy due to GLUT1 deficiency 2018-08-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255340 SCV001431670 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.339del, p.(Ser113Serfs*10) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual.

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