ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1220C>T (p.Pro407Leu)

dbSNP: rs1060501236
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000467830 SCV000545438 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-01-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 406651). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 407 of the CDH1 protein (p.Pro407Leu).
Ambry Genetics RCV004022610 SCV005022166 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-22 criteria provided, single submitter clinical testing The p.P407L variant (also known as c.1220C>T), located in coding exon 9 of the CDH1 gene, results from a C to T substitution at nucleotide position 1220. The proline at codon 407 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available 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.