ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.5173C>A (p.Arg1725=)

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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 RCV003526852 SCV004278705 uncertain significance Autosomal dominant Parkinson disease 8 2023-07-14 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with LRRK2-related conditions. This variant is present in population databases (rs11564176, gnomAD 0.004%). This sequence change affects codon 1725 of the LRRK2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LRRK2 protein.
Breakthrough Genomics, Breakthrough Genomics RCV004696548 SCV005191763 uncertain significance not provided criteria provided, single submitter not provided

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