ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4324G>C (p.Ala1442Pro)

dbSNP: rs281865048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000032459 SCV005835984 uncertain significance Autosomal dominant Parkinson disease 8 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1442 of the LRRK2 protein (p.Ala1442Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Parkinson disease (PMID: 17427941, 22243833). ClinVar contains an entry for this variant (Variation ID: 39185). 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. Experimental studies have shown that this missense change affects LRRK2 function (PMID: 20642453, 24375786, 25009464, 35950872). 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.
GeneReviews RCV000032459 SCV000056119 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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