Submissions for variant NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=)

gnomAD frequency: 0.00016  dbSNP: rs35808389

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000032438	SCV001683799	likely benign	Autosomal dominant Parkinson disease 8	2023-04-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000875282	SCV001792459	likely benign	not provided	2020-08-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31589614, 21885347, 15541309, 16157908, 17523199, 17415511, 16616379)
Athena Diagnostics	RCV001659923	SCV001880901	benign	not specified	2021-05-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321496	SCV002609098	likely benign	Inborn genetic diseases	2022-02-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000875282	SCV004130550	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	LRRK2: BP4, BP7
GeneReviews	RCV000032438	SCV000056094	not provided	Autosomal dominant Parkinson disease 8		no assertion provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003964827	SCV004780259	likely benign	LRRK2-related disorder	2021-03-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).