ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys)

dbSNP: rs281865040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032431 SCV002223045 uncertain significance Autosomal dominant Parkinson disease 8 2021-11-30 criteria provided, single submitter clinical testing 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. Studies have shown that this missense change does not significantly alter or has an unclear effect on LRRK2 gene expression (PMID: 20642453). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 39157). This missense change has been observed in individual(s) with Parkinson disease (PMID: 17804834). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 10 of the LRRK2 protein (p.Glu10Lys).
GeneReviews RCV000032431 SCV000056087 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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