ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2482G>A (p.Val828Met)

gnomAD frequency: 0.00011  dbSNP: rs143915145
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
GeneDx RCV000431045 SCV000525086 uncertain significance not provided 2022-05-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26174511)
Fulgent Genetics, Fulgent Genetics RCV000764000 SCV000894951 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001861543 SCV002281734 uncertain significance Acrocallosal syndrome 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 828 of the KIF7 protein (p.Val828Met). This variant is present in population databases (rs143915145, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of acrocallosal syndrome (PMID: 26174511). ClinVar contains an entry for this variant (Variation ID: 384330). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIF7 protein function with a negative predictive value of 80%. 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.
Daryl Scott Lab, Baylor College of Medicine RCV001861543 SCV002515348 uncertain significance Acrocallosal syndrome 2022-02-01 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.