ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2498T>C (p.Phe833Ser)

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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 RCV002431022 SCV002741079 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-24 criteria provided, single submitter clinical testing The p.F833S variant (also known as c.2498T>C), located in coding exon 16 of the CDH1 gene, results from a T to C substitution at nucleotide position 2498. The phenylalanine at codon 833 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004571145 SCV005060138 uncertain significance Familial cancer of breast 2023-11-21 criteria provided, single submitter clinical testing

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