ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)

gnomAD frequency: 0.10004  dbSNP: rs7308720
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032413 SCV000378580 benign Autosomal dominant Parkinson disease 8 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000712237 SCV000842681 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000032413 SCV001725850 benign Autosomal dominant Parkinson disease 8 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000712237 SCV001864865 benign not provided 2018-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31487119, 31182772, 30917570, 29321258, 20186690, 23913756, 20721913)
Fulgent Genetics, Fulgent Genetics RCV000032413 SCV002796747 benign Autosomal dominant Parkinson disease 8 2021-09-30 criteria provided, single submitter clinical testing
GeneReviews RCV000032413 SCV000056069 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000712237 SCV001807082 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725938 SCV001967007 benign not specified no assertion criteria provided clinical testing

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.