Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001333222 | SCV001525745 | pathogenic | Kleefstra syndrome 1 | 2018-07-17 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001333222 | SCV002176451 | pathogenic | Kleefstra syndrome 1 | 2022-03-23 | 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: 1031404). This premature translational stop signal has been observed in individual(s) with clinical features of Kleefstra syndrome (PMID: 30525188). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1001Thrfs*9) 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). |
Laboratory of Medical Genetics, |
RCV001333222 | SCV002760102 | pathogenic | Kleefstra syndrome 1 | 2022-11-29 | criteria provided, single submitter | research |