ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002467363 SCV002762654 uncertain significance not provided 2022-11-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 RCV003615917 SCV004551453 uncertain significance Intellectual disability, autosomal dominant 5 2023-03-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1803693). 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. 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. This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1105 of the SYNGAP1 protein (p.Arg1105Gln). This variant is not present in population databases (gnomAD no frequency).

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