Application of genomic bioinformatic tools in clinical psychiatry and counseling

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

Characterization of the variant by mutation type.

Gene	Variant	Mutation type	Literature report	Allele frequency¹	Evolutionary conservation²	In sillico parameters³	Cosegregation
SETD1A	c.2209C>Ap.Q737K(p.Gln737Lys)	Missense	Phenotype-associated variant not reported in ClinVar	0	P. troglodytes and F. catus: identical; T. rubripes: not conserved	Conflicting interpretation: benign in 1/3 of databases; pathogenic in 2/3 of databases	Absent
SETD1A	c.2209C>Tp.Q737(p.Gln737Ter)	Nonsense	Phenotype-associated variant reported in ClinVar	0	P. troglodytes: identical; F. catus y T. rubripes: partially conserved	Pathogenic	Not applicable

SETD1A, SET domain-containing protein 1.

Notes:.

^¹Analyzed in all three versions of gnomAD. ² Alignment with homologous amino acid sequences from ten other species: P. troglodytes (chimpanzee), F. catus (cat), and T. rubripes (pufferfish). ³ PolyPhen-2, MutationTaster, and Align-GVGD, listed hierarchically according to their reported accuracy, sensitivity, and specificity (from highest to lowest).

Source: Prepared by the authors.

Este sitio usa cookies