ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)

dbSNP: rs794729221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV000224228 SCV000281727 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333547 SCV001526159 pathogenic Childhood onset GLUT1 deficiency syndrome 2 2018-10-05 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 25167861]
Genome-Nilou Lab RCV000184042 SCV004172968 pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Mendelics RCV000184042 SCV000236573 pathogenic Encephalopathy due to GLUT1 deficiency 2013-12-09 no assertion criteria provided clinical testing

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