ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.2256del (p.Tyr753fs) (rs1555475120)

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
Invitae RCV000525061 SCV000630905 pathogenic Townes syndrome 2016-10-03 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 2 of the SALL1 mRNA (c.2256delC), causing a frameshift at codon 753. This creates a premature translational stop signal (p.Tyr753Thrfs*69) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SALL1 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with Townes-Brocks syndrome (PMID: 17221874). For these reasons, this variant has been classified as 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.