September 7, 2018Human Mutation

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

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Population

56 heterogeneous types of loss of function variants evaluated by seven disease-specific groups

Design

Guideline

Authors

ATAhmad Abou TayounDubai Health Authority TPTina PesaranAmbry Genetics (United States)MDMarina T. DiStefanoBroad Institute

Discussion

Member takes

Implication

Supports implementation of refined PVS1 criteria for consistent loss-of-function variant classification; extends ACMG/AMP guidelines via disease-specific validation.

Structured PICO

Population

56 heterogeneous types of loss of function variants evaluated by seven disease-specific groups

Intervention

Refined recommendations for applying the PVS1 criterion for predicted loss of function variants

Outcome

Agreement with the new recommendation

The refined recommendations for the PVS1 criterion facilitate consistent and accurate interpretation of predicted loss of function variants.

Cite This Study

Tayoun et al. (2018) studied this question.

synapsesocial.com/papers/6a7d40dee9cd826fb346d0e2 https://doi.org/10.1002/humu.23626

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Implication

Supports implementation of refined PVS1 criteria for consistent loss-of-function variant classification; extends ACMG/AMP guidelines via disease-specific validation.

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider