ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3624_3629dup (p.Gln1209_Lys1210dup)

dbSNP: rs752086211
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002027832 SCV002310252 uncertain significance Acrocallosal syndrome 2023-02-10 criteria provided, single submitter clinical testing This variant, c.3624_3629dup, results in the insertion of 2 amino acid(s) of the KIF7 protein (p.Gln1209_Lys1210dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752086211, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1521247). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002548986 SCV003526063 uncertain significance Inborn genetic diseases 2020-12-19 criteria provided, single submitter clinical testing The c.3624_3629dupACAGAA (p.Q1209_K1210dup) alteration is located in exon 18 (coding exon 17) of the KIF7 gene. The alteration consists of an in-frame duplication of 6 nucleotides from position 3624 to 3629, resulting in the duplication of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008440 SCV005640731 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-04-24 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.