ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1605T>G (p.Ile535Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002400857 SCV002706427 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-03 criteria provided, single submitter clinical testing The p.I535M variant (also known as c.1605T>G), located in coding exon 11 of the CDH1 gene, results from a T to G substitution at nucleotide position 1605. The isoleucine at codon 535 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Department of Human Genetics, Hannover Medical School RCV004698870 SCV005200680 uncertain significance Hereditary diffuse gastric adenocarcinoma 2024-09-04 criteria provided, single submitter clinical testing

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