Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Angelman syndrome
Christianson syndrome
Pitt-Hopkins syndrome
Rett syndrome
guidelines
variant interpretation
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
revised:
05
11
2021
received:
19
07
2021
accepted:
21
11
2021
pubmed:
28
11
2021
medline:
20
7
2022
entrez:
27
11
2021
Statut:
ppublish
Résumé
The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those challenges, the Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) drafted gene-specific modifications. A pilot study was conducted to test the clarity and accuracy of using the customized variant interpretation criteria. Multiple curators obtained the same interpretation for 78 out of the 87 variants (~90%), indicating appropriate usage of the modified guidelines the majority of times by all the curators. The classification of 13 variants changed using these criteria specifications compared to when the variants were originally curated and as present in ClinVar. Many of these changes were due to internal data shared from laboratory members however some changes were because of changes in strength of criteria. There were no two-step classification changes and only 1 clinically relevant change (Likely pathogenic to VUS). The Rett/AS VCEP hopes that these gene-specific variant curation rules and the assertions provided help clinicians, clinical laboratories, and others interpret variants in these genes but also other fully penetrant, early-onset genes associated with rare disorders.
Identifiants
pubmed: 34837432
doi: 10.1002/humu.24302
pmc: PMC9135956
mid: NIHMS1759624
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1097-1113Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103537
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG006834
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG006834
Pays : United States
Informations de copyright
© 2021 Wiley Periodicals LLC.
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