ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2354G>A (p.Arg785His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002893755 SCV003650188 uncertain significance Inborn genetic diseases 2022-11-03 criteria provided, single submitter clinical testing The c.2354G>A (p.R785H) alteration is located in exon 15 (coding exon 15) of the SYNGAP1 gene. This alteration results from a G to A substitution at nucleotide position 2354, causing the arginine (R) at amino acid position 785 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003615924 SCV004400973 uncertain significance Intellectual disability, autosomal dominant 5 2023-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 785 of the SYNGAP1 protein (p.Arg785His). This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. This variant is not present in population databases (gnomAD no frequency). 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) performed at Invitae indicates that this missense variant is not expected to disrupt SYNGAP1 protein function. ClinVar contains an entry for this variant (Variation ID: 2321588).

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