ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp)

dbSNP: rs2537389235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002852037 SCV003223959 pathogenic Intellectual disability, autosomal dominant 5 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 271 of the SYNGAP1 protein (p.Ala271Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SYNGAP1-related conditions (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 2019732). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SYNGAP1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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