ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.1143del (p.Thr382fs) (rs1064796125)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482724 SCV000572570 pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing The c.1143delC variant in the KMT2D gene has not been reported previously as a pathogenic variant nor as a benignvariant, to our knowledge. The c.1143delC variant causes a frameshift starting with codon Threonine 382, changesthis amino acid to a Leucine residue, and creates a premature Stop codon at position 20 of the new reading frame,denoted p.Thr382LeufsX20. This variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. The c.1143delC variant was not observed in approximately 6100individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. We interpret c.1143delC as a pathogenic variant.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659695 SCV000781541 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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