ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)

dbSNP: rs1455085342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196330 SCV001366921 uncertain significance Developmental and epileptic encephalopathy, 5 2019-08-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001196330 SCV005438600 likely pathogenic Developmental and epileptic encephalopathy, 5 2024-12-18 criteria provided, single submitter clinical testing

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