ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)

gnomAD frequency: 0.00001  dbSNP: rs1643460439
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667831 SCV001887109 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073168 SCV002472908 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-06-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446865 SCV004172837 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446864 SCV004172838 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446862 SCV004172839 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446863 SCV004172840 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446866 SCV004172841 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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