ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441370 SCV004167744 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003778473 SCV004676572 uncertain significance Intellectual disability, autosomal dominant 5 2023-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SYNGAP1 protein function. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1042 of the SYNGAP1 protein (p.Gln1042Arg).

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