Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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 |