ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287274 SCV002577517 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2022-07-04 criteria provided, single submitter clinical testing PM2, PP2, PP3
Ambry Genetics RCV003097719 SCV003533775 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.250G>A (p.G84S) alteration is located in exon 3 (coding exon 3) of the SLC2A1 gene. This alteration results from a G to A substitution at nucleotide position 250, causing the glycine (G) at amino acid position 84 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003138154 SCV003825653 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445162 SCV004173577 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445161 SCV004173579 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445159 SCV004173580 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445160 SCV004173581 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002287274 SCV004173582 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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