ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3056G>A (p.Arg1019His)

gnomAD frequency: 0.00002  dbSNP: rs747078316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558070 SCV001779943 likely benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568373 SCV003211943 uncertain significance Intellectual disability, autosomal dominant 5 2023-01-05 criteria provided, single submitter clinical testing 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 sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1019 of the SYNGAP1 protein (p.Arg1019His). This variant is present in population databases (rs747078316, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1195115). 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.

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