Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507421 | SCV001712964 | uncertain significance | not provided | 2020-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458492 | SCV002616001 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing | The p.P1169Q variant (also known as c.3506C>A), located in coding exon 31 of the KIF1B gene, results from a C to A substitution at nucleotide position 3506. The proline at codon 1169 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |