ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.84G>T (p.Leu28Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379953 SCV001577865 likely pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2018-02-26 criteria provided, single submitter clinical testing This variant, NM_002397.4:c.79_87delins18, is a complex sequence change that results in the deletion of 3 and insertion of 6 amino acids of the MEF2C protein (p.Gly27_Met29delins6). This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with MEF2C-related disease (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acid(s) is currently unknown. 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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