ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)

gnomAD frequency: 0.00005  dbSNP: rs554894381
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 RCV001244777 SCV001418021 likely benign Spastic paraplegia 2025-01-14 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV001391464 SCV001451238 pathogenic Hereditary spastic paraplegia 10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738216 SCV005350973 uncertain significance KIF5A-related disorder 2024-01-31 no assertion criteria provided clinical testing The KIF5A c.2147G>A variant is predicted to result in the amino acid substitution p.Arg716Gln. This variant has been reported in two individuals with amyotrophic lateral sclerosis (Nakamura et al. 2021. PubMed ID: 32888732). This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD. A different missense change impacting the same amino acid (p.Arg716Trp) was reported in a patient with spastic paraplegia and was interpreted as uncertain (Table 3, Iqbal et al. 2017. PubMed ID: 28362824). At this time, the clinical significance of the c.2147G>A (p.Arg716Gln) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.