Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001174218 | SCV001337345 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV003163383 | SCV003913845 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-17 | criteria provided, single submitter | clinical testing | The p.P607H variant (also known as c.1820C>A), located in coding exon 18 of the KIF1B gene, results from a C to A substitution at nucleotide position 1820. The proline at codon 607 is replaced by histidine, an amino acid with 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. |