ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)

gnomAD frequency: 0.00001  dbSNP: rs760599149
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001426009 SCV001628652 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320019 SCV002609393 likely benign Inborn genetic diseases 2019-11-04 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 RCV003446517 SCV004173516 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446516 SCV004173517 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446514 SCV004173518 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446515 SCV004173519 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446518 SCV004173520 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711334 SCV005263130 likely benign not provided criteria provided, single submitter not provided

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