Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031602 | SCV001194908 | likely pathogenic | Kleefstra syndrome 1 | 2019-03-14 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 16-25 of the EHMT1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with EHMT1-related conditions. This variant disrupts the p.Pro809 amino acid residue in EHMT1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28057753). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |