ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer)

dbSNP: rs398123715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000380261 SCV000330009 pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing The c.1300delC pathogenic variant in the KMT2D gene has been reported previously in association with Kabuki syndrome (Miyake et al., 2013). The c.1300delC variant causes a frameshift starting with codon Leucine 434, which changes this amino acid to a premature Stop codon, denoted p.Leu434Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1300delC variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1300delC as a pathogenic variant.
Human Developmental Genetics Laboratory, Medical College of Wisconsin RCV002509342 SCV002820051 likely pathogenic Kabuki syndrome 1 2023-01-13 criteria provided, single submitter research

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