ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376765 SCV001573929 likely pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2020-05-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 57 of the MEF2C protein (p.Tyr57Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with MEF2C-related conditions (Invitae). In at least one individual the variant was observed to be de novo. 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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