ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.312C>T (p.Phe104=)

dbSNP: rs76672402
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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 RCV001424180 SCV001626772 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002070271 SCV002496869 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SLC2A1: BP4, BP7
Ambry Genetics RCV002322441 SCV002607432 likely benign Inborn genetic diseases 2019-10-23 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 RCV003446757 SCV004173528 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446756 SCV004173529 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446754 SCV004173530 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446755 SCV004173531 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446758 SCV004173532 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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