Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| HUSP Clinical Genetics Laboratory, |
RCV004557281 | SCV005046462 | pathogenic | Kleefstra syndrome 1 | criteria provided, single submitter | clinical testing | The variant was detected in a 21-years-old man with seizures and cognitive impairment. He presented the variant c.2725T>C in exon 19 of EHMT1 (NM_024757.5). It results in a substitution of amino acid (p.Cys909Arg). This variant is not detected in general population and has not been reported in pathogenic data bases.In silico tools predict that this variant affects the function of the protein and label it as pathogenic. The variant is detected in heterozygosis and is a “de novo” variant since it is not detected in the patient’s parents. Pathogenic variants in gen EHMT1 have been associated with Kleefstra Syndrome (OMIM: 610253), compatible with our patient’s phenotype; which includes neurodevelopment delay, and cognitive impairment. The classic form is associated with subtelomeric deletions but 25% of the cases are single nucleotide variants. Cognitive impairment is severe in the classic form, but mild to moderate cases have been reported. Other clinical features are diverse, including seizure, hypotonia and characteristic facies. |