Submissions for variant NM_015100.4(POGZ):c.2669C>T (p.Ala890Val)

gnomAD frequency: 0.00071  dbSNP: rs141251585

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002316069	SCV000847543	benign	Inborn genetic diseases	2018-01-25	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000909352	SCV001054152	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000909352	SCV001757144	benign	not provided	2020-01-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003338754	SCV004049799	likely benign	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000909352	SCV004124636	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	POGZ: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003953268	SCV004768890	benign	POGZ-related condition	2024-01-16	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).