ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter)

dbSNP: rs1798679896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267669 SCV001445897 pathogenic Neurodevelopmental disorder 2019-07-30 criteria provided, single submitter clinical testing This nonsense variant found in exon 17 of 27 is predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge, though other loss of function variants have been described in affected individuals (PMID: 31079897). KMT2E is highly constrained and intolerant to loss of function variants (pLI score: 1.00). The variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.2107G>T (p.Glu703Ter) variant is classified as Pathogenic.
Institute of Human Genetics, Cologne University RCV001420167 SCV001622588 pathogenic O'Donnell-Luria-Rodan syndrome 2021-04-28 criteria provided, single submitter clinical testing

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