Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.

ABSTRACT: Nemaline myopathy (NM) is a heterogeneous genetic neuromuscular disorder characterized by rod bodies in muscle fibers resulting in multiple complications due to muscle weakness. NM patients and their families could benefit from genetic analysis for early diagnosis, carrier and prenatal testing; however, clinical classification of variants is subject to change as further information becomes available. Reclassification can significantly alter the clinical management of patients and their families. We used the newly published data and ACMG/AMP guidelines to reassess NM-associated variants previously reported by clinical laboratories (ClinVar). Our analyses on rare variants that were not canonical loss-of-function (LOF) resulted in the downgrading of ~29% (28/97) of variants from pathogenic or

SUBMITTER: Haghighi A 

PROVIDER: S-EPMC10620380 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature