ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) (rs113217062)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032433 SCV000056089 unknown Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Uncertain significance.
Invitae RCV000032433 SCV000762638 uncertain significance Parkinson disease 8, autosomal dominant 2017-11-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 1006 of the LRRK2 protein (p.Ile1006Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs113217062, ExAC 0.005%). This variant has been reported in an individual affected with Parkinson's disease (PMID: 19405094). ClinVar contains an entry for this variant (Variation ID: 39159). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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