ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)

dbSNP: rs1243172283
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Total submissions: 2
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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, Cologne University RCV001420174 SCV001622596 likely pathogenic O'Donnell-Luria-Rodan syndrome 2021-04-28 criteria provided, single submitter clinical testing

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