ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly)

gnomAD frequency: 0.00016  dbSNP: rs35328937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032411 SCV001271893 uncertain significance Autosomal dominant Parkinson disease 8 2017-04-28 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.
Athena Diagnostics RCV001289088 SCV001476670 benign not specified 2020-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000032411 SCV002390821 benign Autosomal dominant Parkinson disease 8 2023-10-13 criteria provided, single submitter clinical testing
GeneReviews RCV000032411 SCV000056067 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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