ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu)

gnomAD frequency: 0.00001  dbSNP: rs777826971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656084 SCV000598582 uncertain significance Intellectual disability, autosomal dominant 20 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Labcorp Genetics (formerly Invitae), Labcorp RCV000656084 SCV001398578 uncertain significance Intellectual disability, autosomal dominant 20 2019-10-30 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. This sequence change replaces serine with leucine at codon 287 of the MEF2C protein (p.Ser287Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs777826971, ExAC 0.002%). This variant has been observed in an individual with polymicrogyria, microcephaly, and tetraparesis (PMID: 29706646). It is also known as c.890C>T (p.Ser297Leu) in the literature. ClinVar contains an entry for this variant (Variation ID: 438583). 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: "Benign"; Align-GVGD: "Class C0").

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