ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.723del (p.Thr243fs)

dbSNP: rs1598176416
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 RCV001008302 SCV001168070 likely pathogenic not provided 2018-08-10 criteria provided, single submitter clinical testing The c.723delC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.723delC variant is not observed in large population cohorts (Lek et al., 2016). The deletion causes a frameshift starting with codon Threonine 243, changes this amino acid to a Proline residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Thr243ProfsX10. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation as the last 267 amino acids of the protein are replaced with 9 aberrant amino acids. We classify this variant as likely 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.