ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)

gnomAD frequency: 0.00001  dbSNP: rs782791907
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194338 SCV000247388 uncertain significance not specified 2015-05-04 criteria provided, single submitter clinical testing
Invitae RCV002229018 SCV000820601 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-29 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731512 SCV001984204 uncertain significance Heterotopia, periventricular, X-linked dominant 2020-09-24 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237759 SCV002011157 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003237759 SCV004564260 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing The FLNA c.1372G>A; p.Val458Ile variant (rs782791907), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 211011). This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 458 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.131). Due to limited information, the clinical significance of this variant is uncertain at this time.

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.