ArticleFrontiers in medicine2023
Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.
Article in Frontiers in medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Thrombophilia-Related Single Nucleotide Variants and Altered Coagulation Parameters in a Cohort of Mexican Women with Recurrent Pregnancy Loss.Diagnostics (Basel, Switzerland) · 2025Article
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5 authors.
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Abstract
Background: The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have introduced an internationally shared framework for variant classification in genetic disorders. FVII deficiency is a rare inherited autosomal recessive bleeding disorder with sparse data concerning ACMG classification. Methods: To develop an approach which may improve the utility of molecular genetic test results, 129 patients with FVII deficiency were retrospectively assigned to six subgroups for exploratory analysis: Results: Eleven of 31 patients (35.5%) in group 5 had abnormal ISTH-BS ( Conclusion: Patients with a homozygous ACMG 4-5 variant or with specific combinations of heterozygous ACMG 4-5 ± ACMG 1-3 variants exhibited a high-risk bleeding phenotype in contrast to the remaining patients without another bleeding disorder. This result may serve as a basis to develop a genotype/phenotype prediction model in future studies.
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