ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter)

dbSNP: rs1554121960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203980 SCV001375165 pathogenic Intellectual disability, autosomal dominant 5 2019-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SYNGAP1 are known to be pathogenic (PMID: 23161826, 23708187, 26989088). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SYNGAP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln756*) in the SYNGAP1 gene. It is expected to result in an absent or disrupted protein product.

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