ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1450G>A (p.Val484Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004988491 SCV005619037 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The p.V484I variant (also known as c.1450G>A), located in coding exon 13 of the LRRK2 gene, results from a G to A substitution at nucleotide position 1450. The valine at codon 484 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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