ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg)

dbSNP: rs1760891950
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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 Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University RCV001257343 SCV001426406 likely pathogenic Intellectual disability, autosomal dominant 5 2020-08-04 criteria provided, single submitter clinical testing A variant c.968T>C (p.Leu323Pro) affecting the same amino acid but resulting in a different exchange has been described in two different studies in a patient with epilepsy (PMID: 30541864) and another with developmental delay and sensory abnormalities (PMID: 30455457).

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