Submissions for variant NM_198578.4(LRRK2):c.364C>T (p.Leu122=)

gnomAD frequency: 0.00026  dbSNP: rs41286468

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000876776	SCV001019393	likely benign	Autosomal dominant Parkinson disease 8	2023-12-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000876776	SCV001268189	benign	Autosomal dominant Parkinson disease 8	2017-04-27	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV001311805	SCV001502120	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	LRRK2: BP4, BP7
Ambry Genetics	RCV002454044	SCV002613907	likely benign	Inborn genetic diseases	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.