Submissions for variant NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter)

dbSNP: rs886041669

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000395614	SCV000330387	pathogenic	not provided	2016-03-30	criteria provided, single submitter	clinical testing	The R784X pathogenic variant in the POGZ gene has not been reported previously as a pathogenic variant nor as abenign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either throughprotein truncation or nonsense-mediated mRNA decay. The R784X variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000395614	SCV001447174	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	RCV001420212	SCV001622632	pathogenic	See cases	2021-04-26	criteria provided, single submitter	clinical testing	PVS1_very strong;PM2_supporting;PM6_moderate;PP5_moderate
Genome-Nilou Lab	RCV003338494	SCV004049809	pathogenic	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	2023-04-11	criteria provided, single submitter	clinical testing