Submissions for variant NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)

gnomAD frequency: 0.05277  dbSNP: rs1801474

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252261	SCV000310476	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000034122	SCV000461692	benign	Autosomal recessive juvenile Parkinson disease 2	2018-03-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516809	SCV001725159	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490453	SCV002802597	likely benign	Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer	2022-04-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000252261	SCV005091789	benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 24% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 22. Only high quality variants are reported.
GeneReviews	RCV000034122	SCV000058052	not provided	Autosomal recessive juvenile Parkinson disease 2		no assertion provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000252261	SCV001808163	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000252261	SCV001971757	benign	not specified		no assertion criteria provided	clinical testing