Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465957 | SCV000553243 | pathogenic | Developmental and epileptic encephalopathy 94 | 2016-09-26 | criteria provided, single submitter | clinical testing | This sequence change deletes 5 nucleotides from exon 9 of the CHD2 mRNA (c.879_883delTGGTG), causing a frameshift at codon 293. This creates a premature translational stop signal (p.Ser293Argfs*3) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in CHD2are known to be pathogenic (PMID: 24207121). |