Submissions for variant NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)

gnomAD frequency: 0.00002  dbSNP: rs747376669

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000520599	SCV000619503	uncertain significance	not provided	2017-07-27	criteria provided, single submitter	clinical testing	The R1338Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1338Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001208460	SCV001379850	benign	Intellectual disability, autosomal dominant 5	2023-06-10	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001208460	SCV001526207	uncertain significance	Intellectual disability, autosomal dominant 5	2018-05-15	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].