Submissions for variant NM_145239.3(PRRT2):c.880-1G>T

dbSNP: rs1596893952

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000803890	SCV000943777	pathogenic	Episodic kinesigenic dyskinesia	2020-03-03	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with PRRT2-related conditions (PMID: 29132464, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 of the PRRT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV003313980	SCV004013978	pathogenic	Infantile convulsions and choreoathetosis	2021-06-24	criteria provided, single submitter	clinical testing	PVS1, PS2, PM2, PP3, PP5