Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522884 | SCV000620157 | pathogenic | not provided | 2017-09-06 | criteria provided, single submitter | clinical testing | The c.1122dupC variant in the EHMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1122dupC variant causes a frameshift starting with codon Serine 375, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ser375GlnfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.1122dupC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of the c.1122dupC pathogenic variant is consistent with the diagnosis of Kleefstra syndrome in this individual. |