ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.-26C>T

dbSNP: rs758320958
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002284492 SCV002574626 pathogenic not provided 2022-08-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Predicted to create ATG start codon in the 5UTR; This variant is associated with the following publications: (PMID: 34022131)
Institute of Human Genetics, University of Leipzig Medical Center RCV001684643 SCV002765054 pathogenic Intellectual disability, autosomal dominant 20 2022-11-17 criteria provided, single submitter clinical testing _x000D_This variant was identified as de novo (maternity and paternity confirmed). Criteria applied: PS2, PS3, PS4_MOD, PM4, PM2_SUP
Ambry Genetics RCV003163791 SCV003889676 pathogenic Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.-26C>T alteration is located in the 5' untranslated region (5'UTR) of the MEF2C gene. This alteration results from a C to T substitution 26 nucleotides upstream from the first translated codon and creates a possible novel start codon in the 5'UTR. If translation begins at the novel start codon, this will result in an N-terminal elongation of 9 amino acids (Wright, 2021). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was reported de novo in multiple individuals with features consistent with MEF2C-related neurodevelopmental disorder (Wright, 2021). This nucleotide position is not well conserved in available vertebrate species. MEF2C is a transcription factor. A transactivation assay showed this alteration significantly decreased activation of target gene transcription compared to the wild-type (Wright, 2021). Based on the available evidence, this alteration is classified as pathogenic.
OMIM RCV001684643 SCV001900880 pathogenic Intellectual disability, autosomal dominant 20 2021-12-02 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.