Submissions for variant NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)

dbSNP: rs879255404

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238773	SCV000297247	likely pathogenic	not provided	2015-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000238773	SCV000681020	pathogenic	not provided	2023-06-27	criteria provided, single submitter	clinical testing	Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 324 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30577886, 35052493)
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	RCV001420310	SCV001622730	likely pathogenic	See cases	2021-04-26	criteria provided, single submitter	clinical testing	PVS1_strong;PM2_supporting;PM6_moderate;PP5_moderate
Genome-Nilou Lab	RCV003326388	SCV004049785	likely pathogenic	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	2023-04-11	criteria provided, single submitter	clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV003326388	SCV003927884	pathogenic	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	2023-04-01	no assertion criteria provided	clinical testing