ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008326 SCV001168094 pathogenic not provided 2018-09-13 criteria provided, single submitter clinical testing The c.260_261delTC variant in the STXBP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.260_261delTC variant causes a frameshift starting with codon Leucine 87, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Leu87HisfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.260_261delTC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.260_261delTC as a pathogenic variant.
Revvity Omics, Revvity RCV001784551 SCV002023689 likely pathogenic Developmental and epileptic encephalopathy, 4 2021-04-23 criteria provided, single submitter clinical testing

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