Submissions for variant NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)

dbSNP: rs7133914

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000032452	SCV000378604	benign	Autosomal dominant Parkinson disease 8	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.
Invitae	RCV000032452	SCV001722846	benign	Autosomal dominant Parkinson disease 8	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001579406	SCV001900153	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31487119, 29321258, 27013965, 28103901, 20186690, 23962496, 23913756, 20721913)
Fulgent Genetics, Fulgent Genetics	RCV000032452	SCV002803109	likely benign	Autosomal dominant Parkinson disease 8	2021-08-05	criteria provided, single submitter	clinical testing
GeneReviews	RCV000032452	SCV000056109	not provided	Autosomal dominant Parkinson disease 8		no assertion provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579406	SCV001807124	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723597	SCV001957710	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723597	SCV001975079	benign	not specified		no assertion criteria provided	clinical testing