ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3451G>A (p.Ala1151Thr)

gnomAD frequency: 0.00011  dbSNP: rs74985840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032439 SCV000640127 uncertain significance Autosomal dominant Parkinson disease 8 2023-08-17 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. Experimental studies have shown that this missense change does not substantially affect LRRK2 function (PMID: 20642453). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 39165). This missense change has been observed in individual(s) with Parkinson disease (PMID: 16788020, 21885347, 23963289). This variant is present in population databases (rs74985840, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1151 of the LRRK2 protein (p.Ala1151Thr).
GeneReviews RCV000032439 SCV000056096 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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