ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)

dbSNP: rs387907045
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
Institute of Medical Genetics, University of Zurich RCV000023883 SCV000579459 pathogenic Acrocallosal syndrome 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000023883 SCV002240611 pathogenic Acrocallosal syndrome 2021-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 30897). This premature translational stop signal has been observed in individual(s) with Acrocallosal syndrome (PMID: 21552264, 29321670). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1001*) 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).
GeneDx RCV003329235 SCV004036688 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing Observed with a likely pathogenic variant in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Asadollahi et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21552264, 29321670, 33382518, 26147798, 22587682)
OMIM RCV000023883 SCV000045174 pathogenic Acrocallosal syndrome 2011-06-01 no assertion criteria provided literature only

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.