ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.1100dup (p.Gln368fs)

dbSNP: rs1555629370
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 RCV000599489 SCV000710390 likely pathogenic not provided 2018-01-09 criteria provided, single submitter clinical testing The c.1100dupC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1100dupC variant is not observed in large population cohorts (Lek et al., 2016). The c.1100dupC variant causes a frameshift starting with codon Glutamine 368, changes this amino acid to a Threonine residue and subsequently replaces the following 142 correct amino acids with 209 aberrant amino acids, denoted p.Gln368ThrfsX210. Based on the available evidence, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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.