ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1655G>A (p.Arg552Lys)

dbSNP: rs1942888332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001110022 SCV001267408 uncertain significance Autosomal dominant Parkinson disease 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002402500 SCV002707086 uncertain significance Inborn genetic diseases 2022-08-01 criteria provided, single submitter clinical testing The p.R552K variant (also known as c.1655G>A), located in coding exon 14 of the LRRK2 gene, results from a G to A substitution at nucleotide position 1655. The arginine at codon 552 is replaced by lysine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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