Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10388808" target="_blank" >RIV/00216208:11130/18:10388808 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1002/humu.23412" target="_blank" >https://doi.org/10.1002/humu.23412</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/humu.23412" target="_blank" >10.1002/humu.23412</a>
Alternative languages
Result language
angličtina
Original language name
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Human Mutation
ISSN
1059-7794
e-ISSN
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Volume of the periodical
39
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
635-642
UT code for WoS article
000433600000003
EID of the result in the Scopus database
2-s2.0-85043515228