ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.5275A>G (p.Ile1759Val) (rs145639192)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421249 SCV000510813 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000500269 SCV000594746 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000421249 SCV000779711 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The I1759V variant in the FAT4 gene has been reported previously in the homozygous state in an individual with autism spectrum disorder; however this individual also harbored a de novo frameshift variant in the WAC gene (Tammimies et al., 2015). The I1759V variant is observed in 184/126008 (0.15%) alleles from individuals of European background in large population databases (Lek et al., 2016). The I1759V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. GeneDx interprets I1759V as a variant of uncertain significance.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270064 SCV001448824 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2019-03-21 criteria provided, single submitter clinical testing
Invitae RCV000421249 SCV001618325 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000421249 SCV001740405 uncertain significance not provided no assertion criteria provided 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.