ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)

gnomAD frequency: 0.00058  dbSNP: rs34778348
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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 RCV000032508 SCV000378631 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000032508 SCV001001655 benign Autosomal dominant Parkinson disease 8 2024-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000032508 SCV001138697 uncertain significance Autosomal dominant Parkinson disease 8 2019-05-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449818 SCV001653119 risk factor Parkinson disease 2020-09-21 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Revvity Omics, Revvity RCV003488320 SCV004236279 uncertain significance not provided 2020-04-09 criteria provided, single submitter clinical testing
OMIM RCV000032508 SCV000022178 risk factor Autosomal dominant Parkinson disease 8 2008-10-01 no assertion criteria provided literature only
GeneReviews RCV000032508 SCV000056171 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
Codex Genetics Limited RCV000032508 SCV000996011 pathogenic Autosomal dominant Parkinson disease 8 2019-02-28 flagged submission provider interpretation

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