ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)

dbSNP: rs1554121206
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001261156 SCV001438070 likely pathogenic Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing
GeneDx RCV002225816 SCV002504574 pathogenic not provided 2023-10-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001261156 SCV003294040 uncertain significance Intellectual disability, autosomal dominant 5 2022-12-26 criteria provided, single submitter clinical testing 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 expected to disrupt SYNGAP1 protein function. ClinVar contains an entry for this variant (Variation ID: 981613). 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). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 310 of the SYNGAP1 protein (p.Glu310Lys).
Pediatric Department, Xiangya Hospital, Central South University RCV001261156 SCV004032225 likely pathogenic Intellectual disability, autosomal dominant 5 no assertion criteria provided research

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