ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=)

gnomAD frequency: 0.70218  dbSNP: rs1427263
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032471 SCV000378611 benign Autosomal dominant Parkinson disease 8 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000032471 SCV001729640 benign Autosomal dominant Parkinson disease 8 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001675586 SCV001892986 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675586 SCV005230017 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000032471 SCV000056131 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529070 SCV001741898 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529070 SCV001807536 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529070 SCV001957690 benign not specified no assertion criteria provided clinical testing

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