Submissions for variant NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg)

dbSNP: rs1761103512

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001300335	SCV001489472	likely pathogenic	Intellectual disability, autosomal dominant 5	2022-05-27	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 1003739). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SYNGAP1 protein function. This missense change has been observed in individual(s) with clinical features of SYNGAP1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 951 of the SYNGAP1 protein (p.His951Arg).