ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.102C>A (p.Tyr34Ter)

dbSNP: rs147913000
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265500 SCV002547233 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37272175)

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