P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar

Conclusion: Knowing there is linkage disequilibrium between the SLC12A3 and HYDIN pathogenic founder variants that could result in concurrent GD and PCD in individuals of Old Order Amish ancestry, guides clinicians to evaluate for both conditions simultaneously when either condition is suspected.This allows clinicians to optimize their assessments and resources to identify two conditions expeditiously and implement high quality care and disease management for the affected individual.This knowledge helps reduce the incidence of a missed diagnosis and has the potential to improve outcomes.The observed lack of independent segregation between these alleles could be due to historical recombination events within the Amish population during westward migration in the US.Given the rarity of both conditions, we recommend testing for both variants in cases of clinical suspicion, especially within the Amish population.This study highlights the need for population-specific clinical guidelines to promote inclusive healthcare.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102185
Primary Topic
Scientific Computing and Data Management
Type
article
Field-Weighted Citation Impact
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article

P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar

Justyne Ross, Neethu Shah, Deborah Ritter, Marina T. DiStefano et al.
Genetics in Medicine Open
Scientific Computing and Data Management
article

P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar

Justyne Ross, Neethu Shah, Deborah Ritter, Marina T. DiStefano, Sharon E. Plon, Matt W. Wright, Pamela Robertson, Lawrence Babb, G. Toledo Sánchez, Rachel Shapira, Gloria Cheung, Clarissa Klein, Bryan Wulf, Teri E. Klein, Hannah Dziadzio, Aleksandar Milosavljević, Mark Mandell, Christine Preston, Liam Mulhall
article en

Abstract

Conclusion: Knowing there is linkage disequilibrium between the SLC12A3 and HYDIN pathogenic founder variants that could result in concurrent GD and PCD in individuals of Old Order Amish ancestry, guides clinicians to evaluate for both conditions simultaneously when either condition is suspected.This allows clinicians to optimize their assessments and resources to identify two conditions expeditiously and implement high quality care and disease management for the affected individual.This knowledge helps reduce the incidence of a missed diagnosis and has the potential to improve outcomes.The observed lack of independent segregation between these alleles could be due to historical recombination events within the Amish population during westward migration in the US.Given the rarity of both conditions, we recommend testing for both variants in cases of clinical suspicion, especially within the Amish population.This study highlights the need for population-specific clinical guidelines to promote inclusive healthcare.

Genetics in Medicine OpenVol. 3
Broad Institute (US), University of North Carolina at Chapel Hill (US), Baylor College of Medicine (US), Pediatrics and Genetics (US), Baylor Genetics (US), Stanford University (US)
Openalex Percentile: Top 94%
Scientific Computing and Data Management
DOIOpen Access PDFOpenAlex
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