ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2170A>T (p.Ile724Phe)

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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 RCV002432730 SCV002730537 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-22 criteria provided, single submitter clinical testing The p.I724F variant (also known as c.2170A>T), located in coding exon 14 of the CDH1 gene, results from an A to T substitution at nucleotide position 2170. The isoleucine at codon 724 is replaced by phenylalanine, an amino acid with highly 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 RCV004572466 SCV005060053 uncertain significance Familial cancer of breast 2024-03-25 criteria provided, single submitter clinical testing

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