ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del)

dbSNP: rs63750688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695531 SCV000824037 uncertain significance Frontotemporal dementia 2021-08-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000695531 SCV001150158 likely pathogenic Frontotemporal dementia 2019-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000084522 SCV002496223 likely pathogenic not provided 2022-03-21 criteria provided, single submitter clinical testing Published functional studies have demonstrated reduced ability to promote microtubule assembly compared to wild type protein, as well as altered protein conformation resulting in increased propensity to form tau aggregates (Rizzu et al., 1999; Vogelsberg-Ragaglia et al., 2000; Meyer et al., 2014); Previously reported in individuals with frontotemporal dementia and Alzheimer disease; however segregation information was not available (Rizzu et al., 1999; Momeni et al., 2009; Mol et al, 2021); In-frame deletion of 1 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 19498037, 11756436, 11102510, 23515417, 18725924, 9973279, 24448233, 32843152, 32741062, 17723255, 10514099, 24453187)
VIB Department of Molecular Genetics, University of Antwerp RCV000084522 SCV000116658 not provided not provided no assertion provided not provided

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