ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1789C>A (p.Pro597Thr)

dbSNP: rs201625049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166250 SCV000217030 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-15 criteria provided, single submitter clinical testing The p.P597T variant (also known as c.1789C>A), located in coding exon 12 of the CDH1 gene, results from a C to A substitution at nucleotide position 1789. The proline at codon 597 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506747 SCV000600966 uncertain significance not specified 2017-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001237470 SCV001410231 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 597 of the CDH1 protein (p.Pro597Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 186627). 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. 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.
Baylor Genetics RCV003462206 SCV004215636 uncertain significance Familial cancer of breast 2023-09-26 criteria provided, single submitter clinical testing

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