ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2134A>G (p.Met712Val)

dbSNP: rs199566791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002243678 SCV002512900 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing Identified in a patient with Parkinson disease with unknown family history in the published literature (Paisan-Ruiz et al., 2008); Variant showed reduced Ser910/Ser935 phosphorylation and 14-3-3 binding, and ability of this variant to interact weakly with 14-3-3 isoforms may prevent their accumulation within cytoplasmic pools (Nichols et al., 2010); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21885347, 22988870, 24488318, 19800393, 24470158, 19489756, 18973807, 20301387, 18213618, 20642453)
GeneReviews RCV000032418 SCV000056074 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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