Submissions for variant NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)

dbSNP: rs749188610

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000499432	SCV000597375	pathogenic	Intellectual disability, autosomal dominant 5	2016-09-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000499432	SCV000745346	pathogenic	Intellectual disability, autosomal dominant 5	2015-03-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000499432	SCV001378331	pathogenic	Intellectual disability, autosomal dominant 5	2023-05-22	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 436928). This premature translational stop signal has been observed in individual(s) with clinical features of SYNGAP1-related conditions (PMID: 30541864). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg967*) 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).
CeGaT Center for Human Genetics Tuebingen	RCV001724031	SCV001961955	pathogenic	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SYNGAP1: PVS1, PS2, PM2, PS4:Moderate
GeneDx	RCV001724031	SCV002512939	pathogenic	not provided	2021-04-01	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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31332282, 25363760, 31105003, 28191890, 30541864, 30455457, 31209962, 31144778, 31395010, 28714951, 31981491)
Laboratoire de Génétique Moléculaire, CHU Bordeaux	RCV000499432	SCV003836729	pathogenic	Intellectual disability, autosomal dominant 5	2019-09-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000499432	SCV000734496	pathogenic	Intellectual disability, autosomal dominant 5		no assertion criteria provided	clinical testing
GenomeConnect - Simons Searchlight	RCV001265349	SCV001443468	pathogenic	Complex neurodevelopmental disorder	2018-05-04	no assertion criteria provided	provider interpretation	Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-05-04 and interpreted as Pathogenic. Variant was initially reported on 2016-08-24 by GTR ID of laboratory name University Medical Center Groningen Department of Genetics . The reporting laboratory might also submit to ClinVar.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724031	SCV001957566	pathogenic	not provided		no assertion criteria provided	clinical testing
Molecular Genetics laboratory, Necker Hospital	RCV001724031	SCV004031405	pathogenic	not provided	2021-07-26	no assertion criteria provided	clinical testing