ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3574A>G (p.Ile1192Val) (rs281865047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032442 SCV000056099 unknown Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Uncertain significance.
Invitae RCV000032442 SCV000932393 uncertain significance Parkinson disease 8, autosomal dominant 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1192 of the LRRK2 protein (p.Ile1192Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs281865047, ExAC 0.05%). This variant has been observed in a family affected with Parkinson's disease (PMID: 17804834). ClinVar contains an entry for this variant (Variation ID: 39168). Experimental studies have not detected an effect for this missense change on LRRK2 protein function (PMID: 20642453). 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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