Submissions for variant NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)

gnomAD frequency: 0.98545  dbSNP: rs27673

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000323664	SCV000445895	benign	Progressive myoclonic epilepsy	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000616522	SCV000743806	benign	Progressive myoclonic epilepsy type 5	2016-11-11	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712854	SCV000843393	benign	not provided	2018-05-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118166	SCV000860870	benign	not specified	2018-04-20	criteria provided, single submitter	clinical testing
Invitae	RCV000616522	SCV001718280	benign	Progressive myoclonic epilepsy type 5	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118166	SCV000152518	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000616522	SCV000734290	benign	Progressive myoclonic epilepsy type 5		no assertion criteria provided	clinical testing