Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
ACADVL
ClinGen
Pathogenicity
Variant interpretation
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
received:
25
04
2023
revised:
24
07
2023
accepted:
25
07
2023
medline:
14
11
2023
pubmed:
7
8
2023
entrez:
7
8
2023
Statut:
ppublish
Résumé
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately predicting affected status through newborn screening, molecular confirmation of the causative variants by sequencing of the ACADVL gene is necessary. Although the ACMG/AMP guidelines have helped standardize variant classification, ACADVL variant classification remains disparate due to a phenotype that can be nonspecific, the possibility of variants that produce late-onset disease, and relatively high carrier frequency, amongst other challenges. Therefore, an ACADVL-specific variant curation expert panel (VCEP) was created to facilitate the specification of the ACMG/AMP guidelines for VLCADD. We expect these guidelines to help streamline, increase concordance, and expedite the classification of ACADVL variants.
Identifiants
pubmed: 37549443
pii: S1096-7192(23)00298-6
doi: 10.1016/j.ymgme.2023.107668
pii:
doi:
Substances chimiques
Acyl-CoA Dehydrogenase, Long-Chain
EC 1.3.8.8
ACADVL protein, human
EC 1.3.8.9
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
107668Subventions
Organisme : NHGRI NIH HHS
ID : U24 HG006834
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009649
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009650
Pays : United States
Informations de copyright
Copyright © 2023 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.