Submissions for variant NM_198578.4(LRRK2):c.825T>C (p.His275=)

gnomAD frequency: 0.00041  dbSNP: rs72546315

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000992288	SCV001144467	benign	not provided	2019-08-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001110720	SCV001268193	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001110720	SCV001732611	benign	Autosomal dominant Parkinson disease 8	2023-12-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992288	SCV002497215	likely benign	not provided	2022-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002427443	SCV002681054	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.
PreventionGenetics, part of Exact Sciences	RCV003962969	SCV004779501	likely benign	LRRK2-related condition	2020-02-25	criteria provided, single submitter	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).