Submissions for variant NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)

gnomAD frequency: 0.01047  dbSNP: rs35303786

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000032474	SCV000378616	likely benign	Autosomal dominant Parkinson disease 8	2018-03-08	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000032474	SCV000640133	benign	Autosomal dominant Parkinson disease 8	2025-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712241	SCV000842685	benign	not provided	2018-08-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000712241	SCV001802132	likely benign	not provided	2020-09-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25821816, 21885347, 24470158, 23913756)
Breakthrough Genomics, Breakthrough Genomics	RCV000712241	SCV005216654	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000032474	SCV000056134	not provided	Autosomal dominant Parkinson disease 8		no assertion provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000712241	SCV001806905	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712241	SCV001966436	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974864	SCV004793805	benign	LRRK2-related disorder	2019-11-27	no assertion criteria provided	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).