ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1403T>A (p.Met468Lys)

dbSNP: rs763770519
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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 RCV000796202 SCV000935706 likely pathogenic Intellectual disability, autosomal dominant 5 2019-07-30 criteria provided, single submitter clinical testing 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. 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"). This variant has been observed to be de novo in an individual affected with SYNGAP1-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with lysine at codon 468 of the SYNGAP1 protein (p.Met468Lys). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and lysine.

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