ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) (rs1555191203)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659764 SCV000781615 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000760314 SCV000890169 pathogenic not provided 2018-10-04 criteria provided, single submitter clinical testing The R2801X variant in the KMT2D gene has been reported previously as a de novo finding in an individual with Kabuki syndrome (Miyake et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2801X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R2801X as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV000659764 SCV001429476 likely pathogenic Kabuki syndrome 1 2018-06-04 criteria provided, single submitter clinical testing

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