ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter)

gnomAD frequency: 0.00001  dbSNP: rs1338479649
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
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001172424 SCV001335483 pathogenic Fraser syndrome 1 2018-09-14 criteria provided, single submitter clinical testing This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype
Labcorp Genetics (formerly Invitae), Labcorp RCV003769846 SCV004640730 pathogenic not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys670*) in the FRAS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FRAS1 are known to be pathogenic (PMID: 12766769, 18671281). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Fraser syndrome (PMID: 32488952). ClinVar contains an entry for this variant (Variation ID: 916655). For these reasons, this variant has been classified as Pathogenic.

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.