Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032487 | SCV001195794 | likely pathogenic | Kleefstra syndrome 1 | 2019-10-28 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 5-6 of the EHMT1 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with EHMT1-related conditions. Loss-of-function variants in EHMT1 are known to be pathogenic (PMID: 16826528, 19264732). 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. |