ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3644C>T (p.Pro1215Leu)

dbSNP: rs369255811
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035900 SCV001199240 uncertain significance Charcot-Marie-Tooth disease type 2 2023-01-24 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 835091). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs369255811, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1169 of the KIF1B protein (p.Pro1169Leu).
Ambry Genetics RCV002337084 SCV002618857 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-19 criteria provided, single submitter clinical testing The p.P1169L variant (also known as c.3506C>T), located in coding exon 31 of the KIF1B gene, results from a C to T substitution at nucleotide position 3506. The proline at codon 1169 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.