ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter)

dbSNP: rs765622092
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 RCV001172425 SCV001335484 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
Invitae RCV003688920 SCV004450733 likely pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the FRAS1 protein. Other variant(s) that disrupt this region (p.Arg3849Aspfs*8, p.Asn3967Glufs*2) have been observed in individuals with FRAS1-related conditions (PMID: 18671281, 31923588, 32488952). This suggests that this may be a clinically significant region of the protein. ClinVar contains an entry for this variant (Variation ID: 916656). This variant has not been reported in the literature in individuals affected with FRAS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln3825*) in the FRAS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 188 amino acid(s) of the FRAS1 protein.

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.