ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.898del (p.Ser300fs)

dbSNP: rs2131481907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001837057 SCV002097322 pathogenic Developmental and epileptic encephalopathy, 4 2022-02-15 no assertion criteria provided clinical testing The novel heterozygous variant c.898delT in the STXBP1 gene has been identified in a four-month male with a history of perinatal asphyxia, intractable myoclonic seizures, and burst suppression on EEG.

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