Submissions for variant NM_015100.4(POGZ):c.1072A>G (p.Met358Val)

gnomAD frequency: 0.00003  dbSNP: rs574158925

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001575650	SCV001802696	likely benign	not provided	2019-07-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004026153	SCV005008875	likely benign	Inborn genetic diseases	2023-09-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Center of Medical Genetics, Central South University	RCV000754535	SCV000803247	association	Autism spectrum disorder		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547847	SCV004733191	likely benign	POGZ-related disorder	2024-02-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).