ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.990-3C>T

gnomAD frequency: 0.00002  dbSNP: rs762189469
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
GeneDx RCV001588092 SCV001823441 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001588092 SCV002218212 uncertain significance not provided 2024-11-02 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the FBLN5 gene. It does not directly change the encoded amino acid sequence of the FBLN5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs762189469, gnomAD 0.03%). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (internal data). ClinVar contains an entry for this variant (Variation ID: 1217419). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001588092 SCV005873995 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing No Rules Apply

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.