Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760306 | SCV000890158 | pathogenic | not provided | 2021-02-10 | 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: 27321065, 33391964, 16155193, 25525159, 21158681, 33502061) |
Equipe Genetique des Anomalies du Developpement, |
RCV000824845 | SCV000965739 | pathogenic | CHARGE association | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000760306 | SCV001480124 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000824845 | SCV002240583 | pathogenic | CHARGE association | 2021-02-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with CHARGE syndrome (PMID: 16155193). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 620086). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg858*) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). |
MGZ Medical Genetics Center | RCV000824845 | SCV002579235 | likely pathogenic | CHARGE association | 2021-07-12 | criteria provided, single submitter | clinical testing |