Submissions for variant NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)

dbSNP: rs754074166

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000504468	SCV000596636	uncertain significance	not specified	2016-09-07	criteria provided, single submitter	clinical testing
Invitae	RCV000536830	SCV000655466	likely benign	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	2023-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314875	SCV000847715	likely benign	Inborn genetic diseases	2017-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneDx	RCV001653862	SCV001862629	benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001653862	SCV004164253	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	PURA: BS1
PreventionGenetics, part of Exact Sciences	RCV003979898	SCV004792383	likely benign	PURA-related condition	2021-07-27	criteria provided, single submitter	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).