Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser

Inherited Neuropathy Consortium

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated one in 2,500 people. Over 120 CMT and related genes have been identified and clinical gene panels often contain more than 100 genes. Such a large genomic space will invariantly yield variants of uncertain clinical significance (VUS) in nearly any person tested. This rise in number of VUS creates major challenges for genetic counseling. Additionally, fewer individual variants in known genes are being published as the academic merit is decreasing, and most testing now happens in clinical laboratories, which typically do not correlate their variants with clinical phenotypes. For CMT, we aim to encourage and facilitate the global capture of variant data to gain a large collection of alleles in CMT genes, ideally in conjunction with phenotypic information. The Inherited Neuropathy Variant Browser provides user-friendly open access to currently reported variation in CMT genes. Geneticists, physicians, and genetic counselors can enter variants detected by clinical tests or in research studies in addition to genetic variation gathered from published literature, which are then submitted to ClinVar biannually. Active participation of the broader CMT community will provide an advance over existing resources for interpretation of CMT genetic variation.

Original languageEnglish (US)
Pages (from-to)635-642
Number of pages8
JournalHuman mutation
Volume39
Issue number5
DOIs
StatePublished - May 2018

Keywords

  • VUS
  • database
  • inherited neuropathy
  • variants of unknown significance

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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