Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000993724 | SCV001146913 | likely pathogenic | See cases | 2019-02-07 | criteria provided, single submitter | research | The heterozygous p.Ser754* variant in KMT2E was identified by our study in one individual with developmental delay. Trio exome analysis showed this variant to be de novo. The p.Ser754* variant in KMT2E has not been previously reported in individuals with developmental delay and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 754 which is predicted to lead to a truncated or absent protein. This alteration is then predicted to lead to a truncated or absent protein. It is of note, that loss of function of the KMT2E gene in autosomal dominant disease has not yet been established based on the criteria laid out in Tayoun, 2018 (PMID: 30192042). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. |