PDF(Pubmed)
Abstract：
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.
摘要：
超长链酰基辅酶A脱氢酶（VLCAD）缺乏症（VLCADD）是一种相对常见的先天性代谢错误，但是由于难以通过新生儿筛查准确预测受影响的状态，通过ACADVL基因测序对致病变异体进行分子确认是必要的.尽管ACMG/AMP指南有助于标准化变体分类，由于表型可以是非特异性的，ACADVL变体分类仍然不同，产生迟发性疾病的变异的可能性，和相对较高的载波频率，在其他挑战中。因此,我们创建了一个ACADVL特异性变体管理专家小组(VCEP),以促进ACMG/AMP指南对VLCADD的规范.我们希望这些指导方针有助于精简，增加一致性，并加快ACADVL变体的分类。
