ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys)

dbSNP: rs776043627
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
Invitae RCV001933489 SCV002199650 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1530 of the FLNB protein (p.Tyr1530Cys). This variant is present in population databases (rs776043627, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FLNB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1426840). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNB protein function with a negative predictive value of 95%. 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.
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002254360 SCV002525565 uncertain significance Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Larsen syndrome 2022-02-01 criteria provided, single submitter clinical testing The c.4682A>G variant is present in gnomAD at a low frequency (MAF 0.00000398). In-silico pathogenicity prediction programs like PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions are confirmed by any published functional studies. The variant has not been identified or reported in diseased individuals.

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.