ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter)

gnomAD frequency: 0.00001  dbSNP: rs775259788
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
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001172416 SCV001335475 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
Fulgent Genetics, Fulgent Genetics RCV001172416 SCV002810886 pathogenic Fraser syndrome 1 2021-12-20 criteria provided, single submitter clinical testing
Invitae RCV003769845 SCV004629395 pathogenic not provided 2023-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 916647). This premature translational stop signal has been observed in individual(s) with Fraser syndrome (PMID: 31999076). This variant is present in population databases (rs775259788, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg385*) 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).

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.