ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp)

dbSNP: rs1777743502
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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 RCV001294820 SCV001483715 uncertain significance Intellectual disability, autosomal dominant 20 2020-05-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MEF2C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 94 of the MEF2C protein (p.Asn94Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid.

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