ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2428A>G (p.Ile810Val) (rs72546337)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479404 SCV000568510 uncertain significance not provided 2017-03-15 criteria provided, single submitter clinical testing The I810V variant in the LRRK2 gene has been reported previously in an individual with Parkinson disease, however, no additional familial segregation or clinical information was provided, and this individual also harbored a heterozygous variant in another gene that may be associated with Parkinson disease susceptibility (Lesage et al., 2009). The I810V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I810V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I810V as a variant of uncertain significance.
GeneReviews RCV000032424 SCV000056080 unknown Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Uncertain significance.

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