ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2165T>C (p.Ile722Thr)

dbSNP: rs878854682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232644 SCV000288455 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 722 of the CDH1 protein (p.Ile722Thr). 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: 239890). 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.
Ambry Genetics RCV002429114 SCV002731330 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-13 criteria provided, single submitter clinical testing The p.I722T variant (also known as c.2165T>C) is located in coding exon 14 of the CDH1 gene, results from a T to C substitution at nucleotide position 2165. This variant impacts the first base pair of coding exon 14. The isoleucine at codon 722 is replaced by threonine, an amino acid with similar 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.
Baylor Genetics RCV003463666 SCV004215741 uncertain significance Familial cancer of breast 2023-05-03 criteria provided, single submitter clinical testing

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