Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001365768 | SCV001562049 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 167 of the KIF1B protein (p.Arg167His). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1056875). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Ambry Genetics | RCV002350692 | SCV002645472 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-03 | criteria provided, single submitter | clinical testing | The p.R167H variant (also known as c.500G>A), located in coding exon 5 of the KIF1B gene, results from a G to A substitution at nucleotide position 500. The arginine at codon 167 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |