ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.

ABSTRACT:

Purpose

Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of ARG1 variants do not sufficiently distinguish benign from pathogenic variants. Additionally, ongoing discussions of reproductive carrier screening for diseases such as ARG1 creates a need for improved understanding of ARG1 variant classification. Here, we incorporate American College of Medical Genetics and Genomics/Association for Molecular Pathology-developed guidelines for interpreting gene variants and in silico predictions to select allele frequencies for estimation of global birth prevalence of ARG1 deficiency.

Methods

We interrogated Genome Aggregation Database and PubMed for publis

SUBMITTER: Cameron JM 

PROVIDER: S-EPMC11613747 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature