ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1676G>A (p.Ser559Asn)

dbSNP: rs1596960625
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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 RCV001012612 SCV001173087 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-17 criteria provided, single submitter clinical testing The p.S559N variant (also known as c.1676G>A), located in coding exon 11 of the CDH1 gene, results from a G to A substitution at nucleotide position 1676. The serine at codon 559 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV003461328 SCV004215731 uncertain significance Familial cancer of breast 2023-05-17 criteria provided, single submitter clinical testing

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