ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1316_1318delCTC (p.Pro439del) (rs587779082)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491828 SCV000580573 likely pathogenic Hereditary cancer-predisposing syndrome 2015-08-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000491828 SCV000904680 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing
Counsyl RCV000411959 SCV000488947 uncertain significance Lynch syndrome I 2016-07-26 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076119 SCV000107134 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000528474 SCV000625249 uncertain significance Hereditary nonpolyposis colon cancer 2017-08-09 criteria provided, single submitter clinical testing This variant, c.1316_1318delCTC, results in the deletion of 1 amino acid of the MSH2 protein (p.Pro439del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals and families affected with Lynch syndrome (PMID: 15365995, 20388775). This variant is also known as c.1316_1318delCCT (p.Leu440del) in the literature. ClinVar contains an entry for this variant (Variation ID: 90623). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.