Description
A variant of uncertain significance has been identified in the KCNQ2 gene. The V108M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. This variant is observed in 2/111464 (0.002%) alleles from individuals of Europeanbackground in large population cohorts (Lek et al., 2016). In-silico analyses, including proteinpredictors and evolutionary conservation, support a deleterious effect. Additionally, missense variants in nearby residues have been reported in individuals with KCNQ2-related disorders (Stenson et al., 2014; Hortigüela et al., 2016). Furthermore, this substitution is predicted to be within thetransmembraine segment S1. However, the V108M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
