ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.767TGC[3] (p.Leu257dup)

dbSNP: rs1554777488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521817 SCV000619412 likely pathogenic not provided 2017-07-27 criteria provided, single submitter clinical testing The c.770_772dupTGC variant in the STXBP1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.770_772dupTGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.770_772dupTGC variant results in an in-frame duplication and is predicted to cause an insertion of a Leucine residue at codon 257, denoted p.Leu257dup. This substitution occurs at a position that is conserved across species. We interpret c.770_772dupTGC as a likely pathogenic variant,

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