ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.853A>G (p.Ile285Val)

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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 RCV004645034 SCV005132915 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The p.I285V variant (also known as c.853A>G), located in coding exon 8 of the LRRK2 gene, results from an A to G substitution at nucleotide position 853. The isoleucine at codon 285 is replaced by valine, 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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