ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2351G>C (p.Arg784Pro)

dbSNP: rs763203357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761165 SCV000891081 uncertain significance Hereditary diffuse gastric adenocarcinoma 2020-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303233 SCV004007950 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-31 criteria provided, single submitter clinical testing The p.R784P variant (also known as c.2351G>C), located in coding exon 15 of the CDH1 gene, results from a G to C substitution at nucleotide position 2351. The arginine at codon 784 is replaced by proline, an amino acid with dissimilar properties. This alteration was absent from 7,051 unselected female breast cancer patients and from 11,241 female controls of Japanese ancestry. In addition, it was not observed in unselected male breast cancer patients but was observed with an allele frequency of 0.0001 in 12,490 male controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 Oct;9:4083). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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