ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.1148_1149del (p.Ile383fs)

dbSNP: rs386833447
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003556119 SCV004295513 pathogenic not provided 2023-03-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 55965). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with congenital chloride diarrhea (PMID: 21150650). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile383Serfs*74) in the SLC26A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A3 are known to be pathogenic (PMID: 9718329, 21394828).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049374 SCV000081807 probable-pathogenic Congenital secretory diarrhea, chloride type no assertion criteria provided not provided Converted during submission to 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.