Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599099 | SCV000710529 | pathogenic | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | The c.756dupC variant in the EHMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.756dupC variant causes a frameshift starting with codon Phenylalanine 253, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 45 of the new reading frame, denoted p.Phe253LeufsX45. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.756dupC variant is not observed in large population cohorts (Lek et al., 2016). |
Baylor Genetics | RCV003333084 | SCV004040858 | likely pathogenic | Kleefstra syndrome 1 | 2023-01-09 | criteria provided, single submitter | clinical testing |