ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)

gnomAD frequency: 0.00003  dbSNP: rs755571737
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314566 SCV000848327 likely benign Inborn genetic diseases 2016-11-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001411664 SCV001613727 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532533 SCV001748138 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446395 SCV004173499 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446394 SCV004173501 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446392 SCV004173502 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446393 SCV004173503 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446396 SCV004173504 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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