ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys)

gnomAD frequency: 0.00002  dbSNP: rs376280025
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002012167 SCV002229617 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235632 SCV003934790 uncertain significance not specified 2023-05-11 criteria provided, single submitter clinical testing Variant summary: FLNB c.5051A>G (p.Tyr1684Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 251092 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5051A>G in individuals affected with Larsen Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.