Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004645011 | SCV005132886 | uncertain significance | Inborn genetic diseases | 2024-04-26 | criteria provided, single submitter | clinical testing | The p.M842R variant (also known as c.2525T>G), located in coding exon 20 of the LRRK2 gene, results from a T to G substitution at nucleotide position 2525. The methionine at codon 842 is replaced by arginine, an amino acid with 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. |