Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000256075 | SCV000322125 | pathogenic | not provided | 2015-06-16 | criteria provided, single submitter | clinical testing | The c.624delG variant in the KCNQ2 gene causes a frameshift starting with codon Methionine 208, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 65 of the new reading frame, denoted p.Met208IlefsX65. This variant is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, other truncating mutations in the KCNQ2 gene have been reported in association with KCNQ2-related disorders (Stenson et al., 2014). |