Submissions for variant NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)

dbSNP: rs132630297

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV000011812	SCV000291972	pathogenic	Borjeson-Forssman-Lehmann syndrome	2016-06-09	criteria provided, single submitter	research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000011812	SCV000803878	pathogenic	Borjeson-Forssman-Lehmann syndrome	2018-01-17	criteria provided, single submitter	clinical testing
Invitae	RCV000011812	SCV002232142	pathogenic	Borjeson-Forssman-Lehmann syndrome	2021-03-15	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Borjeson–Forssman–Lehmann Syndrome (PMID: 12415272, 15241480, 28554332, Invitae). ClinVar contains an entry for this variant (Variation ID: 11063). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg342*) in the PHF6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the PHF6 protein.
CeGaT Center for Human Genetics Tuebingen	RCV002262562	SCV002546199	pathogenic	not provided	2022-06-01	criteria provided, single submitter	clinical testing	PHF6: PVS1, PM2
OMIM	RCV000011812	SCV000032045	pathogenic	Borjeson-Forssman-Lehmann syndrome	2004-10-01	no assertion criteria provided	literature only