ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.856C>G (p.Leu286Val)

gnomAD frequency: 0.00023  dbSNP: rs200437744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225585 SCV000822642 uncertain significance Autosomal dominant Parkinson disease 8 2024-10-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 286 of the LRRK2 protein (p.Leu286Val). This variant is present in population databases (rs200437744, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clinical features of Parkinson disease (PMID: 24082139, 26213354). ClinVar contains an entry for this variant (Variation ID: 236286). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRRK2 protein function. 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.
Athena Diagnostics RCV001658050 SCV001880905 likely benign not specified 2020-11-12 criteria provided, single submitter clinical testing
GeneReviews RCV000225585 SCV000282476 uncertain significance Autosomal dominant Parkinson disease 8 2014-12-11 no assertion criteria provided literature only

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