ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1772C>T (p.Pro591Leu)

gnomAD frequency: 0.00001  dbSNP: rs587782643
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 RCV000132041 SCV000187100 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-24 criteria provided, single submitter clinical testing The p.P591L variant (also known as c.1772C>T), located in coding exon 12 of the MSH2 gene, results from a C to T substitution at nucleotide position 1772. The proline at codon 591 is replaced by leucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 115000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. However, this alteration is predicted to be benign, tolerated, and benign by PolyPhen, SIFT, and MAPP-MMR in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.P591L remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000204826 SCV000260921 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000132041 SCV001358449 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-18 criteria provided, single submitter clinical testing
GeneDx RCV002466445 SCV002762609 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18822302, 9774676, 21120944)
Baylor Genetics RCV004567149 SCV005053463 uncertain significance Lynch syndrome 1 2024-02-13 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.