ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatric Neurology, Seoul National University Children's Hospital RCV003988809 SCV004805206 likely pathogenic Intellectual disability, autosomal dominant 5 2024-03-08 criteria provided, single submitter clinical testing This variant was detected as de novo in an individual with moderate intellectual disability and epilepsy. In addition, This variant is not present in population databases (gnomAD). Criteria applied: PS2, PM1, PM2.

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