Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599391 | SCV000710633 | likely pathogenic | not provided | 2018-02-07 | criteria provided, single submitter | clinical testing | The c.3090_3093delCAGC variant causes a frameshift starting with codon Serine 103, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 82 of the new reading frame, denoted p.Ser1031IlefsX82. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). Although the c.3090_3093delCAGC variant has not been reported previously to our knowledge, other frameshift variants in the MED13L gene have been reported in the Human Gene Mutation Database in association with MED13L-related disorders (Stenson et al., 2014). |