ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met)

gnomAD frequency: 0.00004  dbSNP: rs113217062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000032433 SCV000762638 uncertain significance Autosomal dominant Parkinson disease 8 2023-07-07 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. Advanced 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 at Invitae 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. ClinVar contains an entry for this variant (Variation ID: 39159). This missense change has been observed in individual(s) with Parkinson's disease (PMID: 19405094, 22251894). This variant is present in population databases (rs113217062, gnomAD 0.07%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1006 of the LRRK2 protein (p.Ile1006Met).
Illumina Laboratory Services, Illumina RCV000032433 SCV001270493 uncertain significance Autosomal dominant Parkinson disease 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV000032433 SCV002789495 uncertain significance Autosomal dominant Parkinson disease 8 2021-08-25 criteria provided, single submitter clinical testing
GeneReviews RCV000032433 SCV000056089 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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