ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) (rs869312698)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209864 SCV000265581 pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2015-08-07 criteria provided, single submitter research
Invitae RCV000209864 SCV001234047 likely pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2019-02-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 24 of the MEF2C protein (p.Arg24Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. 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 MEF2C-related disease (PMID: 28554332). ClinVar contains an entry for this variant (Variation ID: 224136). 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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