Submissions for variant NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)

gnomAD frequency: 0.00228  dbSNP: rs144455095

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000516353	SCV000614772	benign	not specified	2016-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000535765	SCV000659545	benign	Progressive myoclonic epilepsy type 5	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001147249	SCV001308038	likely benign	Progressive myoclonic epilepsy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV003431057	SCV004150438	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	PRICKLE2: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003960222	SCV004771496	benign	PRICKLE2-related condition	2019-03-05	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).