ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) (rs35658131)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032503 SCV000056166 unknown Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Uncertain significance.
Invitae RCV000032503 SCV000940535 uncertain significance Parkinson disease 8, autosomal dominant 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 2189 of the LRRK2 protein (p.Tyr2189Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs35658131, ExAC 0.2%). This variant has been observed in several individuals affected with Parkinson’s disease (PD) and controls without PD (PMID: 18197194, 21885347, 20721913, 27094865, 20443975). ClinVar contains an entry for this variant (Variation ID: 39229). Experimental studies have shown that this missense change results in elevated kinase activity (PMID: 25821816). 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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