ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281630 SCV001468962 pathogenic not provided criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871641 SCV002162505 pathogenic Intellectual disability, autosomal dominant 5 2022-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1061Trpfs*92) in the SYNGAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNGAP1 are known to be pathogenic (PMID: 23161826, 23708187, 26989088). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 992861). This premature translational stop signal has been observed in individual(s) with SYNGAP1-related disorders (PMID: 30577886, 33639450). In at least one individual the variant was observed to be de novo.

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