Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380028 | SCV001577955 | pathogenic | not provided | 2023-09-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change results in a frameshift in the KMT2E gene (p.Leu1610Phefs*259). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 249 amino acid(s) of the KMT2E protein and extend the protein by 9 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individual(s) with clinical features of KMT2E-related neurodevelopmental disorder (PMID: 31079897). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1068464). This variant results in an extension of the KMT2E protein. Other variant(s) that result in a similarly extended protein product (p.Pro1686Serfs*183) have been determined to be pathogenic (Invitae). This suggests that these extensions are likely to be disease-causing. |
Institute of Human Genetics, |
RCV001420174 | SCV001622596 | likely pathogenic | O'Donnell-Luria-Rodan syndrome | 2021-04-28 | criteria provided, single submitter | clinical testing |