ClinVar Miner

Submissions for variant NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg) (rs386833481)

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
Illumina Clinical Services Laboratory,Illumina RCV000049408 SCV000915195 uncertain significance Congenital secretory diarrhea, chloride type 2017-04-28 criteria provided, single submitter clinical testing The SLC26A3 c.392C>G (p.Pro131Arg) variant is a missense variant that has been reported in two studies in a total of three unrelated individuals with familial chloride diarrhea, including one in a compound heterozygous state and two in a heterozygous state (Hoglund et al. 1998; Pieroni and Bass 2011). One of the individuals who was heterozygous for the variant was also heterozygous for a frameshift variant, although the phase of these variants is not reported. The p.Pro131Arg variant was absent from 104 control chromosomes and is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium. This frequency is based on one allele in an area of good coverage, so the variant is presumed to be rare. Based on the evidence, the p.Pro131Arg variant is classified as a variant of unknown significance but suspicious for pathogenicity for familial chloride diarrhea. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049408 SCV000081841 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.