ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.5385G>T (p.Leu1795Phe)

dbSNP: rs111910483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001578132 SCV001805668 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing Reported in association with Parkinson disease; however, additional clinical information and segregation information were not provided (Ghani et al., 2015; Latourelle et al., 2011); Published functional studies are inconclusive as to whether the variant alters protein function and structure (Nichols et al., 2010; Doggett et al., 2012); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21661047, 30049590, 24488318, 21885347, 19472409, 17804834, 22004453, 20642453, 25174650)
Invitae RCV000032482 SCV002177329 uncertain significance Autosomal dominant Parkinson disease 8 2022-01-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects LRRK2 function (PMID: 20642453, 22004453). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 39208). This missense change has been observed in individual(s) with Parkinson disease (PMID: 17804834, 25174650, 27094865). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1795 of the LRRK2 protein (p.Leu1795Phe).
GeneReviews RCV000032482 SCV000056143 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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