ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter)

dbSNP: rs1554121207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803610 SCV000943490 pathogenic Intellectual disability, autosomal dominant 5 2018-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu313*) in the SYNGAP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNGAP1-related disease. Loss-of-function variants in SYNGAP1 are known to be pathogenic (PMID: 23161826, 23708187, 26989088). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004768664 SCV005376010 pathogenic not provided 2024-04-19 criteria provided, single submitter clinical testing Reported previously as a pathogenic variant in a patient with epileptic encephalopathy (PMID: 31440721); 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: 31440721)

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