Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000054509 | SCV000898594 | pathogenic | Developmental and epileptic encephalopathy 94 | 2021-11-11 | criteria provided, single submitter | clinical testing | CHD2 NM_001271 exon 4 p.Arg121* (c.361C>T): This variant has been reported in the literature as de novo in 1 individual with epileptic encephalopathy (Carvill 2013 PMID:23708187). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is predicted to cause a stopgain at this codon, resulting in protein truncation or loss of allelic expression through nonsense-mediated mRNA decay. Loss of function has been suggested as a mechanism of disease for this gene (Carvill 2013 PMID:23708187). In summary, this variant is classified as likely pathogenic based on the data above (predicted impact to protein etc., presence as a de novo in literature). |
Gene |
RCV003162428 | SCV003915197 | pathogenic | not provided | 2022-10-10 | criteria provided, single submitter | clinical testing | Identified in a patient with epileptic encephalopathy in the published literature (PMID 29455050); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29455050, 24207121, 23708187) |
Invitae | RCV000054509 | SCV004296608 | pathogenic | Developmental and epileptic encephalopathy 94 | 2023-01-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 60712). This premature translational stop signal has been observed in individual(s) with epileptic encephalopathy (PMID: 23708187, 29455050). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg121*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). |
OMIM | RCV000054509 | SCV000082987 | pathogenic | Developmental and epileptic encephalopathy 94 | 2013-07-01 | no assertion criteria provided | literature only |