Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001563597 | SCV001786571 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2021-01-11 | criteria provided, single submitter | clinical testing | The LRRK2 c.4453T>G (p.Tyr1485Asp) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Tyr1485Asp variant is classified as a variant of uncertain significance for LRRK2-related Parkinsonism. |
| Ambry Genetics | RCV004988689 | SCV005619257 | uncertain significance | Inborn genetic diseases | 2024-11-17 | criteria provided, single submitter | clinical testing | The p.Y1485D variant (also known as c.4453T>G), located in coding exon 31 of the LRRK2 gene, results from a T to G substitution at nucleotide position 4453. The tyrosine at codon 1485 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |