ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)

gnomAD frequency: 0.00055  dbSNP: rs35658131
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000032503 SCV000940535 likely benign Autosomal dominant Parkinson disease 8 2024-10-02 criteria provided, single submitter clinical testing
Mendelics RCV000032503 SCV001138695 uncertain significance Autosomal dominant Parkinson disease 8 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000032503 SCV001267602 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV000032503 SCV002793334 uncertain significance Autosomal dominant Parkinson disease 8 2021-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546417 SCV005041554 benign not provided 2024-04-01 criteria provided, single submitter clinical testing LRRK2: BP4, BS1, BS2
GeneDx RCV004546417 SCV005201855 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 18197194, 30635421, 24470158, 20721913, 25821816, 35950872, 24488318, 21885347)
GeneReviews RCV000032503 SCV000056166 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.