Submissions for variant NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)

gnomAD frequency: 0.61824  dbSNP: rs3761863

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000375193	SCV000378633	benign	Autosomal dominant Parkinson disease 8	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.
Athena Diagnostics	RCV000712244	SCV000842689	benign	not provided	2017-08-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000375193	SCV001729645	benign	Autosomal dominant Parkinson disease 8	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000712244	SCV001862782	benign	not provided	2018-08-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26844546, 25521227, 30917570, 25378673)
Breakthrough Genomics, Breakthrough Genomics	RCV000712244	SCV005230038	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528447	SCV001740213	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001528447	SCV001809187	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528447	SCV001957752	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528447	SCV001971452	benign	not specified		no assertion criteria provided	clinical testing
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta	RCV002291617	SCV002583887	confers sensitivity	Leprosy, susceptibility to, 1	2022-06-10	no assertion criteria provided	case-control