ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro)

dbSNP: rs1561784553
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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 RCV000692134 SCV000819943 likely pathogenic Intellectual disability, autosomal dominant 5 2018-09-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 293 of the SYNGAP1 protein (p.Arg293Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with SYNGAP1-related disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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