ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1612G>T (p.Asp538Tyr)

gnomAD frequency: 0.00001  dbSNP: rs756154596
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573781 SCV000661634 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-11 criteria provided, single submitter clinical testing The p.D538Y variant (also known as c.1612G>T), located in coding exon 11 of the CDH1 gene, results from a G to T substitution at nucleotide position 1612. The aspartic acid at codon 538 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV000679563 SCV000806639 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001325307 SCV001516293 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-06-27 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 479491). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is present in population databases (rs756154596, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 538 of the CDH1 protein (p.Asp538Tyr).
Baylor Genetics RCV003459281 SCV004215626 uncertain significance Familial cancer of breast 2023-10-06 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.