ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1819C>T (p.Pro607Ser)

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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 RCV002410312 SCV002712022 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-20 criteria provided, single submitter clinical testing The p.P607S variant (also known as c.1819C>T), located in coding exon 12 of the CDH1 gene, results from a C to T substitution at nucleotide position 1819. The proline at codon 607 is replaced by serine, an amino acid with 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.
Baylor Genetics RCV003464534 SCV004215690 uncertain significance Familial cancer of breast 2023-07-14 criteria provided, single submitter clinical testing

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