ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1559A>G (p.Gln520Arg)

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
Ambry Genetics RCV004984011 SCV005611570 uncertain significance Inborn genetic diseases 2024-08-11 criteria provided, single submitter clinical testing The c.1559A>G (p.Q520R) alteration is located in exon 6 (coding exon 5) of the KIF7 gene. This alteration results from a A to G substitution at nucleotide position 1559, causing the glutamine (Q) at amino acid position 520 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017355 SCV005642990 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-01-28 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.