ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs)

dbSNP: rs1554110298
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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 RCV000576280 SCV000676972 uncertain significance Intellectual disability, autosomal dominant 20 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr205Serfs*28) in the MEF2C gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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 variant has not been reported in the literature in individuals with MEF2C-related disease. However, it has been observed in several individuals who were not affected with MEF2C-related disease (Invitae).

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