ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) (rs1064794474)

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 RCV000486735 SCV000569259 likely pathogenic not provided 2016-01-25 criteria provided, single submitter clinical testing The c.1448_1451delACAG likely pathogenic variant in the TCOF1 gene causes a frameshift starting with codon Aspartic acid 483, changes this amino acid to a Valine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Asp483ValfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, the c.1448_1451delACAG 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. Although c.1448_1451delACAG has not been previously reported to our knowledge, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000654875 SCV000776777 pathogenic Treacher Collins syndrome 1 2017-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp483Valfs*9) in the TCOF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TCOF1-related disease. ClinVar contains an entry for this variant (Variation ID: 420429). Loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 8894686, 22317976). For these reasons, this variant has been classified as Pathogenic.
Autoinflammatory diseases unit,CHU de Montpellier RCV000654875 SCV001438079 pathogenic Treacher Collins syndrome 1 2018-05-16 no assertion criteria provided clinical testing

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.