ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.429+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338164 SCV004047142 likely pathogenic Developmental and epileptic encephalopathy, 4 criteria provided, single submitter clinical testing The splice site c.429+2T>G variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.429+2T>G variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant mutates a splice-donor sequence, potentially resulting in the retention of large segments of intronic DNA by the mRNA and nonfunctional proteins. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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