ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.1079G>C (p.Gly360Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV002293390 SCV002586271 uncertain significance Developmental and epileptic encephalopathy, 41 2021-08-13 no assertion criteria provided clinical testing Not reported, not seen in gnomAD population database, highly conserved and predicted pathogenic. Considered a suspect VUS.

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