ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.972+17T>A

gnomAD frequency: 0.00017  dbSNP: rs202140308
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703497 SCV000514684 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21135204)
Labcorp Genetics (formerly Invitae), Labcorp RCV002061518 SCV002373776 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343810 SCV004061360 likely benign Inborn genetic diseases 2023-07-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003445959 SCV004172812 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445958 SCV004172813 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445956 SCV004172815 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445957 SCV004172816 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445960 SCV004172817 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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