ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1515-5C>T

gnomAD frequency: 0.00001  dbSNP: rs776534234
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002212582 SCV002362374 likely benign Charcot-Marie-Tooth disease type 2 2021-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045611 SCV002700923 uncertain significance not specified 2022-04-07 criteria provided, single submitter clinical testing The c.1377-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 14 in the KIF1B gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003911285 SCV004723714 likely benign KIF1B-related disorder 2020-09-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.