ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs) (rs1057518043)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413653 SCV000491412 likely pathogenic not provided 2016-01-13 criteria provided, single submitter clinical testing The c.1578_1599del22 variant in the FLCN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1578_1599del22 variant causes a frameshift starting with codon Serine 526, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Ser526ArgfsX4. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1578_1599del22 variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1578_1599del22 variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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.