Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001057592 | SCV001222093 | pathogenic | Kleefstra syndrome 1 | 2023-02-01 | 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: 852882). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu14Glyfs*23) in the EHMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EHMT1 are known to be pathogenic (PMID: 16826528, 19264732). |
| Gene |
RCV001664649 | SCV001875348 | pathogenic | not provided | 2021-08-04 | criteria provided, single submitter | clinical testing | Frameshift 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 (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
| Center for Molecular Medicine, |
RCV001057592 | SCV002073933 | pathogenic | Kleefstra syndrome 1 | 2022-03-08 | no assertion criteria provided | clinical testing |