Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants

Yoko Inoue, Osamu Machida, Yosuke Kita, Toshiyuki Yamamoto

研究成果: Article査読

抄録

The guidelines provided by American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) (ACMG/AMP guidelines) suggest a framework for the classification of clinical variants. However, the interpretations can be inconsistent, with each definition sometimes proving to be ambiguous. In particular, there can be difficulty with interpretation of variants related to the X-linked recessive trait. To confirm whether there are biases in the interpretation of inherited traits, we reanalyzed variants reported prior to the release of the ACMG/AMP guidelines. As expected, the interpretation ratio as pathogenic or likely pathogenic was significantly lower for variants related to the X-linked recessive trait. Evaluation of variants related to the X-linked recessive trait, hence, need to consider whether the variant is identified only in males in accordance with the X-linked recessive trait. The ACMG/AMP guidelines should be revised to eliminate the bias revealed in this study.

本文言語English
ページ(範囲)120-124
ページ数5
ジャーナルIntractable and Rare Diseases Research
11
3
DOI
出版ステータスPublished - 2022

ASJC Scopus subject areas

  • 医学(全般)

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