ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)

gnomAD frequency: 0.00004  dbSNP: rs749067830
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351933 SCV001546450 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001563011 SCV001785877 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446724 SCV004172242 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446723 SCV004172243 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446721 SCV004172244 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446722 SCV004172245 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446725 SCV004172246 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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