ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.404T>C (p.Met135Thr)

dbSNP: rs1794395844
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 Laboratory Services, Illumina RCV001163684 SCV001325746 uncertain significance Congenital secretory diarrhea, chloride type 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV004963165 SCV005504760 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.404T>C (p.M135T) alteration is located in exon 5 (coding exon 4) of the SLC26A3 gene. This alteration results from a T to C substitution at nucleotide position 404, causing the methionine (M) at amino acid position 135 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.