ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.5356_5382del (p.Cys1786_His1794del)

dbSNP: rs1799400614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003329887 SCV004036697 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing In-frame deletion of 9 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University Hospital of Duesseldorf RCV005055400 SCV005689500 uncertain significance O'Donnell-Luria-Rodan syndrome criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV003329887 SCV005840787 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing This variant, c.5356_5382del, results in the deletion of 9 amino acid(s) of the KMT2E protein (p.Cys1786_His1794del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KMT2E-related conditions. ClinVar contains an entry for this variant (Variation ID: 2580692). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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