ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.401-3A>G

dbSNP: rs886041408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000288258 SCV000330010 pathogenic not provided 2016-02-20 criteria provided, single submitter clinical testing The c.401-3A>G pathogenic variant in the KMT2D gene, denoted as c.400-3A>G due to alternative nomenclature, has been reported previously as a de novo variant in an individual with a clinical diagnosis of Kabuki syndrome (Micale et al., 2011). This variant is predicted to destroy the natural splice acceptor site in intron 3 and create a cryptic splice acceptor site upstream, thus is expected to cause abnormal gene splicing. The c.401-3A>G variant was not observed in approximately 6,100 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.401-3A>G as a pathogenic variant.

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