ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)

gnomAD frequency: 0.00140  dbSNP: rs33995463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032441 SCV000640128 likely benign Autosomal dominant Parkinson disease 8 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000657893 SCV000779657 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing Reported previously in individuals with Parkinson disease, however L119P was also seen in control subjects (Jasinska-Myga et al., 2010; Ross et al., 2011; Benitez et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28130640, 25466404, 31980526, 33836114, 31996268, 29369408, 27393345, 32557143, 28842327, 20721913, 25174650, 27294386, 21885347, 27094865, 34542912, Kalogeropulou2022[functionalstudy], 33454605)
Illumina Laboratory Services, Illumina RCV000032441 SCV001268188 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.
CeGaT Center for Human Genetics Tuebingen RCV000657893 SCV003917202 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing LRRK2: BS1
GeneReviews RCV000032441 SCV000056098 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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