Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002321847 | SCV002610674 | uncertain significance | Inborn genetic diseases | 2022-03-09 | criteria provided, single submitter | clinical testing | The p.L1063F variant (also known as c.3187C>T), located in coding exon 24 of the LRRK2 gene, results from a C to T substitution at nucleotide position 3187. The leucine at codon 1063 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV000225519 | SCV000282481 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2014-12-11 | no assertion criteria provided | literature only |