Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.

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: F7 gene wildtype (group 1), ACMG 1 (benign variant) or ACMG 2 (likely benign variant), only (group 2), ACMG 3 (variant of uncertain significance) ± ACMG 1-2 heterozygous or not classified variant (group 3), A

SUBMITTER: Alesci RS 

PROVIDER: S-EPMC10382174 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature