ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.28G>A (p.Ala10Thr)

gnomAD frequency: 0.00001  dbSNP: rs1053572488
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804491 SCV000944402 uncertain significance Hereditary diffuse gastric adenocarcinoma 2021-10-12 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. This variant has not been reported in the literature in individuals affected with CDH1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with threonine at codon 10 of the CDH1 protein (p.Ala10Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV002440707 SCV002750900 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-03 criteria provided, single submitter clinical testing The p.A10T variant (also known as c.28G>A), located in coding exon 1 of the CDH1 gene, results from a G to A substitution at nucleotide position 28. The alanine at codon 10 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved on limited sequence alignment. 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.
Baylor Genetics RCV004569614 SCV005060115 uncertain significance Familial cancer of breast 2023-12-22 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.