Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000190741 | SCV000244182 | pathogenic | Inborn genetic diseases | 2013-10-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657720 | SCV000779469 | pathogenic | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26795593, 27652284, 28074849, 25356970) |
Invitae | RCV000692792 | SCV000820635 | pathogenic | Developmental and epileptic encephalopathy 94 | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1679*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with childhood-onset epileptic encephalopathy (PMID: 26795593, 28074849). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 208725). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV000692792 | SCV001428917 | pathogenic | Developmental and epileptic encephalopathy 94 | 2017-12-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000657720 | SCV004010405 | pathogenic | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | CHD2: PVS1, PM1, PM2, PS4:Moderate |
Genome |
RCV000692792 | SCV001423400 | not provided | Developmental and epileptic encephalopathy 94 | no assertion provided | phenotyping only | Variant interpretted as Pathogenic and reported on 08-28-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |