Submissions for variant NM_006772.3(SYNGAP1):c.388-3C>G

dbSNP: rs1448169616

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV000851521	SCV000994580	likely pathogenic	Intellectual disability, autosomal dominant 5	2019-01-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000851521	SCV001215950	pathogenic	Intellectual disability, autosomal dominant 5	2024-12-02	criteria provided, single submitter	clinical testing	This sequence change falls in intron 4 of the SYNGAP1 gene. It does not directly change the encoded amino acid sequence of the SYNGAP1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with SYNGAP1-related conditions (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 691275). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	RCV001374895	SCV001572182	likely pathogenic	Neurodevelopmental disorder	2020-04-03	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000851521	SCV003818854	uncertain significance	Intellectual disability, autosomal dominant 5	2021-09-06	criteria provided, single submitter	clinical testing