ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)

dbSNP: rs778139192
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201533 SCV000256437 pathogenic Acrocallosal syndrome 2015-02-23 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000201533 SCV000887490 pathogenic Acrocallosal syndrome 2019-03-12 criteria provided, single submitter research
Invitae RCV000201533 SCV001213703 pathogenic Acrocallosal syndrome 2022-11-23 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of KIF7-related conditions (PMID: 23125460, 27081521). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217670). This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg1111*) in the KIF7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIF7 are known to be pathogenic (PMID: 19666503, 21552264, 21633164, 26648833).
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000201533 SCV001438873 pathogenic Acrocallosal syndrome criteria provided, single submitter clinical testing

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.