ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)

gnomAD frequency: 0.00267  dbSNP: rs75485205
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081428 SCV000113359 benign not specified 2013-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000081428 SCV000171708 benign not specified 2013-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081428 SCV000194961 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000457829 SCV000557630 benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313781 SCV000849114 likely benign Inborn genetic diseases 2017-02-23 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.
CeGaT Center for Human Genetics Tuebingen RCV001727564 SCV004127892 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SLC2A1: BP4, BP7, BS2
Genome-Nilou Lab RCV003445490 SCV004172306 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445489 SCV004172307 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445487 SCV004172308 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445488 SCV004172309 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445491 SCV004172310 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081428 SCV001927946 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727564 SCV001969760 likely benign not provided no assertion criteria provided clinical testing

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