Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

被引：3

作者：

Flowers, May ^{[1
]}

Dickson, Alexa ^{[2
]}

Miller, Marcus J. ^{[3
]}

Spector, Elaine ^{[4
,5
]}

Enns, Gregory Mark ^{[6
]}

Baudet, Heather ^{[7
]}

Pasquali, Marzia ^{[8
,9
]}

Racacho, Lemuel ^{[10
]}

Sadre-Bazzaz, Kianoush ^{[9
]}

Wen, Ting ^{[9
]}

Fogarty, Melissa ^{[9
]}

Fernandez, Raquel ^{[11
]}

Weaver, Meredith A. ^{[11
]}

Feigenbaum, Annette ^{[12
,13
]}

Graham, Brett H. ^{[3
]}

Mao, Rong ^{[8
,9
]}

机构：

[1] Invitae Corp, San Francisco, CA 94103 USA

[2] Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA

[3] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA

[4] Univ Colorado, Sch Med, Dept Pathol, Aurora, CO 80045 USA

[5] Univ Colorado, Sch Med, Dept Pediat, Sect Clin Genet & Metab, Aurora, CO 80045 USA

[6] Stanford Univ, Lucile Packard Childrens Hosp, Dept Pediat, Div Med Genet, Stanford, CA 94304 USA

[7] Univ North Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27599 USA

[8] Univ Utah, Dept Pathol, Salt Lake City, UT 84112 USA

[9] ARUP Labs, Salt Lake City, UT 84108 USA

[10] Alberta Childrens Prov Gen Hosp, Dept Med Genet, Calgary, AB T3B6A8, Canada

[11] Amer Coll Med Genet & Genom, Bethesda, MD 20814 USA

[12] Rady Childrens Hosp, Dept Pediat, Div Genet, San Diego, CA 92123 USA

[13] Univ Calif San Diego, San Diego, CA 92123 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2023年 / 140卷 / 03期

基金：

美国国家卫生研究院;

关键词：

Variant interpretation; Pathogenicity; ACADVL; ClinGen; COA DEHYDROGENASE-DEFICIENCY; ACID OXIDATION DISORDERS; SENSITIVE MILD MUTATIONS; VLCAD DEFICIENCY; CHAIN; NEWBORN; CLINGEN; RECOMMENDATIONS; CLASSIFICATION; PHENOTYPE;

D O I：

10.1016/j.ymgme.2023.107668

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：11

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