ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2077G>A (p.Ala693Thr)

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
Ambry Genetics RCV002422228 SCV002729823 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-10 criteria provided, single submitter clinical testing The p.A693T variant (also known as c.2077G>A), located in coding exon 14 of the MSH3 gene, results from a G to A substitution at nucleotide position 2077. The alanine at codon 693 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004572461 SCV005053584 uncertain significance Endometrial carcinoma 2024-03-12 criteria provided, single submitter clinical testing

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.