Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008587 | SCV001168360 | pathogenic | not provided | 2019-02-22 | criteria provided, single submitter | clinical testing | The c.1941_1948delGCCTCCAG variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1941_1948delGCCTCCAG variant causes a frameshift starting with codon Proline 648, changes this amino acid to a Alanine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Pro648AlafsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1941_1948delGCCTCCAG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1941_1948delGCCTCCAG as a pathogenic variant. |