Open AccessMissense variants in TMEM 67 in a patient with Joubert syndrome
Author(s) -
Huynh Julie M.,
Galindo Maureen,
Laukaitis Christina M.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1748
Subject(s) - medicine , missense mutation , mutation , genetics , gene , biology
Key Clinical Message We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two TMEM 67 variants of uncertain significance ( VUS ). One VUS can be reclassified as “likely pathogenic” by adding clinical data. As genetic testing becomes more accessible, more VUS will require clinical correlation for accurate classification.