ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203899 SCV001375081 uncertain significance Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 46 of the MEF2C protein (p.Ile46Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEF2C-related conditions. 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001203899 SCV001529195 likely pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2018-01-13 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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