ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.886T>G (p.Ser296Ala)

dbSNP: rs1554121193
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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 RCV000527897 SCV000646445 uncertain significance Intellectual disability, autosomal dominant 5 2017-07-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SYNGAP1-related disease. This sequence change replaces serine with alanine at codon 296 of the SYNGAP1 protein (p.Ser296Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine.

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