ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2488A>G (p.Arg830Gly)

dbSNP: rs2499665558
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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 RCV003182599 SCV003867086 uncertain significance Inborn genetic diseases 2023-03-08 criteria provided, single submitter clinical testing The p.R830G variant (also known as c.2488A>G), located in coding exon 19 of the LRRK2 gene, results from an A to G substitution at nucleotide position 2488. The arginine at codon 830 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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