Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.

Shana VerschuereNastassia NavassiolavaLudovic MartinPasi I NevalainenPaul J CouckeOlivier M Vanakker

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Besides highlighting discrepancies between the Sherloc, American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP), ClinVar, and Leiden Open Variation Database (LOVD) classification, our results emphasize the need for segregation analysis, functional assays, and detailed evidence sharing in variant databases to reach a confident interpretation of ABCC6 missense variants and subsequent appropriate genetic and preconceptual counseling.

Keyphrases

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