ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)

gnomAD frequency: 0.00007  dbSNP: rs147319894
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189340 SCV000242975 benign not specified 2014-12-04 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.
Eurofins Ntd Llc (ga) RCV000727515 SCV000709370 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087764 SCV001001890 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-12-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343682 SCV004049339 benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343681 SCV004049340 benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343679 SCV004049341 benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343680 SCV004049342 benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343683 SCV004049343 benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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