ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.6259G>C (p.Glu2087Gln)

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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 RCV004990025 SCV005619116 uncertain significance Inborn genetic diseases 2024-09-04 criteria provided, single submitter clinical testing The p.E2087Q variant (also known as c.6259G>C), located in coding exon 42 of the LRRK2 gene, results from a G to C substitution at nucleotide position 6259. The glutamic acid at codon 2087 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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