Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000624869 | SCV000742935 | uncertain significance | Inborn genetic diseases | 2017-11-01 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000765249 | SCV000896496 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2022-03-25 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000765249 | SCV002175556 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change affects codon 991 of the CHD2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CHD2 protein. This variant also falls at the last nucleotide of exon 23, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with clinical features of CHD2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 522068). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |