Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000659695 | SCV000781541 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing |