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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

by Bayrak-Toydemir, Pinar , McDonald, Jamie , Racher, Hilary , Shovlin, Claire L. , Dupuis-Girod, Sophie , Massink, Maarten P. G. , Ichikawa, Shoji , DeMille, Desiree , Ganguly, Arupa , Thompson, Bryony A. , Jovine, Luca , Sbalchiero, Anna , Kasthuri, Raj S. , Jessen, Jaime , Olivieri, Carla , Lesca, Gaetan , Cantarini, Claudia , Bernabeu, Carmelo , Tusseau, Maud

in Activin Receptors, Type II - genetics / Age / Classification / Endoglin - genetics / Epistaxis / Family medical history / Genes / Genetic counseling / Genetic Testing - standards / Genetic Variation / Genomics / Genotype & phenotype / Hemorrhage / Hereditary hemorrhagic telangiectasia / Humans / Laboratories / Standardization / Telangiectasia, Hereditary Hemorrhagic - diagnosis / Telangiectasia, Hereditary Hemorrhagic - genetics / Working groups

2024

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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

2024

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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

2024

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Journal Article

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

Bayrak-Toydemir, Pinar,

McDonald, Jamie,

Racher, Hilary,

Shovlin, Claire L.,

Dupuis-Girod, Sophie,

Massink, Maarten P. G.,

Ichikawa, Shoji,

DeMille, Desiree,

Ganguly, Arupa,

Thompson, Bryony A.,

Jovine, Luca,

Sbalchiero, Anna,

Kasthuri, Raj S.,

Jessen, Jaime,

Olivieri, Carla,

Lesca, Gaetan,

Cantarini, Claudia,

Bernabeu, Carmelo,

Tusseau, Maud

2024

Overview

The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and disease-specific modifications and specifications of these general guidelines to optimize and standardize variant classification was recognized at the time of publication. With this goal, the ClinGen HHT variant curation expert panel was formed. Here, we describe our recommended HHT-specific variant classification criteria and the outcomes from pilot testing of 30 variants of the ENG and ACVRL1 genes. Eight of the original ACMG/AMP rules were determined to not be applicable for ENG- or ACVRL1-related HHT or were previously recommended by ClinGen for removal, two rules were unmodified, and the remaining 18 rules were modified according to HHT specifications or previous ClinGen general recommendations. This study demonstrates the importance of HHT-specific criteria in the optimization and standardization of HHT variant classification and conflicting classification resolution.

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Publisher

Hindawi,John Wiley & Sons, Inc

Subject

Activin Receptors, Type II - genetics

/ Age

/ Classification

/ Endoglin - genetics

/ Epistaxis

/ Family medical history

/ Genes