Artículo de revisión
Published on 21 de agosto de 2026 | http://doi.org/10.5867/medwave.2026.07.3225
Application of genomic bioinformatic tools in clinical psychiatry and counseling
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Evaluation of pathogenicity criteria for each variant.
| The mutation type criterion is considered very strong evidence of pathogenicity when the variant is nonsense or frameshift. | +8 | A supporting benign criterion is assigned to a missense variant in a gene for which disease is known to be caused predominantly by truncating variants. Specifically, the proportion of benign missense variants relative to the total must exceed 0.331. In this case, the ratio of benign missense variants (82) to the total number of missense variants excluding variants of uncertain significance (92) was 0.89. | −1 |
| If the variant has been reported as pathogenic in reputable biomedical and genomic databases (e.g., ClinVar), but no functional studies or independent evaluations have been performed, it is considered strong evidence of pathogenicity. | +4 | The allele frequency criterion supports pathogenicity when the variant is absent from healthy control populations in genomic databases. | +1 |
| If multiple lines of computational evidence support a deleterious effect on the gene or its product (e.g., evolutionary conservation, predicted functional impact), this constitutes supporting evidence of pathogenicity. | +1 | Lack of segregation among affected family members constitutes strong benign evidence. | −4 |
| Classified as pathogenic (total score: 13 points) | Classified as likely benign (total score: −4 points) |
Notes: Information based on the assigned score [6].
Source: Compiled by the authors of the article.